EXT1 Antibody (PACO21220)
- SKU:
- PACO21220
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
抗体名: | EXT1 Antibody (PACO21220) |
抗体コード: | PACO21220 |
サイズ: | 100ul(100ug) |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | ELISA:1:2000-1:10000, WB:1:500-1:2000, IHC:1:50-1:200 |
反応性: | Human, Mouse, Rat |
免疫原: | Recombinant protein of human EXT1 |
憲法: | Liquid |
ストレージバッファ: | Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
精製方法: | Affinity purification |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
![]() | Western blot analysis of extracts of MDA-MB231 cell lines, using EXT1 antibody. |
バックグラウンド: | Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas. Linkage analyses have identified three different genes for EXT, EXT1 on 8q24.1, EXT2 on 11p11-13 and EXT3 on 19p, a family of tumor suppressor genes. Most EXT cases have been attributed to missense or frameshift mutations, which lead to loss of function of the EXT genes. EXT1 is an ER-resident type II transmembrane glycoprotein and a heparan sulphate polymerase with both D-glucuronyl and N-acetyl-D-glucosaminoglycan transferase activities. Expression of EXT1 in cells results in the alteration of the synthesis and display of cell surface heparan sulfate glycosaminoglycans. EXT1 mutations have been identified in multiple types of human tumors. |
シノニム: | EXT1; EXT; LGS; TTV; LGCR; TRPS2 |
UniProt Protein Function: | EXT1: 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 EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1). 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 EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2). A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in EXT1 are a cause of chondrosarcoma (CHDSA). It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Belongs to the glycosyltransferase 47 family. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Glycan Metabolism - heparan sulfate biosynthesis; Tumor suppressor; Motility/polarity/chemotaxis; EC 2.4.1.225; EC 2.4.1.224; Transferase Chromosomal Location of Human Ortholog: 8q24.11 Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane Molecular Function:acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; protein heterodimerization activity; glucuronosyltransferase activity; metal ion binding; heparan sulfate N-acetylglucosaminyltransferase activity; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Biological Process: glycosaminoglycan biosynthetic process; axon guidance; ossification; cellular polysaccharide biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; glycosaminoglycan metabolic process; olfactory bulb development; carbohydrate metabolic process; heparan sulfate proteoglycan biosynthetic process; protein amino acid glycosylation; gastrulation; pathogenesis; mesoderm development; signal transduction; skeletal development; endoderm development Disease: Chondrosarcoma; Exostoses, Multiple, Type I |
NCBI Summary: | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q16394 |
NCBI GenInfo Identifier: | 20141422 |
NCBI Gene ID: | 2131 |
NCBI Accession: | Q16394.2 |
UniProt Related Accession: | Q16394 |
Molecular Weight: | ~ 86kDa |
NCBI Full Name: | Exostosin-1 |
NCBI Synonym Full Names: | exostosin glycosyltransferase 1 |
NCBI Official Symbol: | EXT1 |
NCBI Official Synonym Symbols: | EXT; LGS; TTV; LGCR; TRPS2 |
NCBI Protein Information: | exostosin-1 |
UniProt Protein Name: | Exostosin-1 |
UniProt Synonym Protein Names: | Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 1; Putative tumor suppressor protein EXT1 |
Protein Family: | Extensin |
UniProt Gene Name: | EXT1 |
UniProt Entry Name: | EXT1_HUMAN |
Antibodies | ELISA Kits |
Anti-EXT1 Antibody (CAB2030) | Human EXT1 / Exostoses 1 ELISA Kit |
Human EXT1 (Exostoses 1) CLIA Kit (HUES00800) |
Secondary Antibody |
Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014) |
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