EXT2 Antibody, Biotin conjugated (PACO50885)
- SKU:
- PACO50885
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Description
抗体名: | EXT2 Antibody, Biotin conjugated (PACO50885) |
抗体コード: | PACO50885 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human Exostosin-2 protein (180-267AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
バックグラウンド: | Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan. |
シノニム: | Exostosin-2 (EC 2.4.1.224) (EC 2.4.1.225) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostoses protein 2) (Putative tumor suppressor protein EXT2), EXT2 |
UniProt Protein Function: | EXT2: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Defects in EXT2 are a cause of hereditary multiple exostoses type 2 (EXT2). EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Defects in EXT2 are a cause of Potocki-Shaffer syndrome (POSHS). It is a contiguous gene syndrome due to proximal deletion of chromosome 11p11.2, including EXT2 and ALX4. Belongs to the glycosyltransferase 47 family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Glycan Metabolism - heparan sulfate biosynthesis; Transferase; EC 2.4.1.225; Membrane protein, integral; EC 2.4.1.224; Tumor suppressor Chromosomal Location of Human Ortholog: 11p12-p11 Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; membrane Molecular Function:acetylglucosaminyltransferase activity; glucuronosyltransferase activity; protein heterodimerization activity; protein homodimerization activity; transferase activity, transferring glycosyl groups Biological Process: cellular polysaccharide biosynthetic process; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; ossification; signal transduction Disease: Exostoses, Multiple, Type Ii |
NCBI Summary: | This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q93063 |
NCBI GenInfo Identifier: | 3023739 |
NCBI Gene ID: | 2132 |
NCBI Accession: | Q93063.1 |
UniProt Secondary Accession: | Q93063,O15288, B2R5Z6, C9JU51, J3KPT2, |
UniProt Related Accession: | Q93063 |
Molecular Weight: | 85,815 Da |
NCBI Full Name: | Exostosin-2 |
NCBI Synonym Full Names: | exostosin glycosyltransferase 2 |
NCBI Official Symbol: | EXT2 |
NCBI Official Synonym Symbols: | SOTV; SSMS |
NCBI Protein Information: | exostosin-2 |
UniProt Protein Name: | Exostosin-2 |
UniProt Synonym Protein Names: | Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2; Putative tumor suppressor protein EXT2 |
Protein Family: | Extensin |
UniProt Gene Name: | EXT2 |
UniProt Entry Name: | EXT2_HUMAN |