This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. ; ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TGFBR3 (AA: 147-328 ) expressed in E. Coli.
This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1 peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TGFb1 (AA: 62-195) expressed in E. Coli.
Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFF2 (AA: 20-125) expressed in E. Coli.
The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFAP2C (AA: 341-450) expressed in E. Coli.
This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFAP2B (AA: 84-193) expressed in E. Coli.
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFAP2A (AA: 1-100) expressed in E. Coli.
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFAP2A (AA: 105-211) expressed in E. Coli.
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TFAP2A (AA: 105-211) expressed in E. Coli.
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TCF4 (AA: 518-667) expressed in E. Coli.
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TCF4 (AA: 518-667) expressed in E. Coli.
This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Immunogen:
Purified recombinant fragment of human TBC1D4 (AA: 574-712) expressed in E. Coli.
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human TARDBP (AA: 126-260) expressed in E. Coli.
This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.;
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SIRT7 (AA: 1-105) expressed in E. Coli.
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. Alternative splicing results in multiple transcript variants.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SIRT6 (AA: 141-250) expressed in E. Coli.
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. Alternative splicing results in multiple transcript variants.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SIRT6 (AA: 141-250) expressed in E. Coli.
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SIRT3 (AA: 155-290) expressed in E. Coli.
This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly.
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SHH (AA: 26-161) expressed in E. Coli.
This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SH3GL1 (AA: 12-119) expressed in E. Coli.
This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SH3GL1 (AA: 12-119) expressed in E. Coli.
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SERPINA7 (AA: 168-302) expressed in E. Coli.
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SERPINA7 (AA: 168-302) expressed in E. Coli.
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SERPINA1 (AA: 23-237) expressed in E. Coli.
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene.;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human SERPINA1 (AA: 23-237) expressed in E. Coli.
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence. ; ; ; ;
Product Type:
Antibodies Primary
Antibody Type:
monoclonal
Storage Temp:
4°C -20°C for long term storage
Host Animal:
mouse
Immunogen:
Purified recombinant fragment of human GABBR2 (AA: 319-483) expressed in E. Coli.
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