Rabbit anti-Human, Mouse EXT1 Polyclonal Antibody | anti-EXT1 antibody

EXT1 Polyclonal Antibody

Cat. Num. AAA3008068

• Gene Names: EXT1; EXT; LGS; TTV; LGCR; TRPS2
• Reactivity: Human, Mouse
• Applications: Western Blot, Immunofluorescence
• Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Synonyms: EXT1; Polyclonal Antibody; EXT1 Polyclonal Antibody; Exostosin 1; Exostosin-1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 1; Multiple exostoses protein 1 homolog; Putative tumor suppressor protein EXT1; anti-EXT1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: EXT1 polyclonal antibody detects endogenous levels of EXT1 protein.
• Purity/Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Form/Format: Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
• Sequence Length: 746

• Applicable Applications for anti-EXT1 antibody: Western Blot (WB), Immunofluorescence (IF)
• Application Notes: WB: 1:500-1:2000; IF: 1:50-1:200
• Immunogen: Recombinant full length Human EXT1.
• Preparation and Storage: Store at 4 degree C short term.; Aliquot and store at -20 degree C long term.; Avoid freeze-thaw cycles.

Western Blot (WB)

(Western Blot analysis of EXT1 polyclonal antibody)

Related Product Information for anti-EXT1 antibody

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of exostoses (EXT), which are cartilage-capped bony protuberances mainly located on long bones. Two proteins associated with EXT, EXT1 and EXT2, form homo/heteromeric complexes in vivo, which leads to the accumulation of both proteins in the Golgi apparatus. EXT1 and EXT2 are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess, or are tightly associated with, glycosyltransferase activities involved in the polymerization of the glycosaminoglycan, heparan sulfate (HS). EXT2 is a protein that harbors the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of HS. EXT1 rescues defective HS biosynthesis and elevates low GlcA and GlcNAc transferase levels in mutated cells.

NCBI and Uniprot Product Information

• NCBI GI #: 20141422
• NCBI GeneID: 2131
• UniProt Accession #: Q16394
• Molecular Weight: ~ 86kDa
• NCBI Official Full Name: Exostosin-1
• NCBI Official 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
• Protein Family: Extensin
• UniProt Gene Name: EXT1
• UniProt Entry Name: EXT1_HUMAN

NCBI Description

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 Description

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.

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