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Anti-EXT1 Antibody

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Anti-EXT1 Antibody


Anti-EXT1 Antibody  的详细介绍
Name: Anti-EXT1 Antibody
See all EXT1 primary antibodies
Description: Rabbit polyclonal antibody to EXT1
Specificity: The antibody detects endogenous level of total EXT1 protein.
Applications: WB, IHC
Reactivity: Human, Mouse, Rat
Immunogen: Recombinant protein of human EXT1.
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Purification: Antibodies were purified by affinity purification using immunogen.
Concentration: 1.0mg / ml
Formulation: Supplied at 1.0mg / mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Storage: Store at -20?C
Function: 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 (PubMed:22660413).
Tissue Specificity: Ubiquitous.
Involvement in Disease: Hereditary multiple exostoses 1: 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.

Tricho-rhino-phalangeal syndrome 2: A syndrome that combines the clinical features of tricho-rhino-phalangeal 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.

Chondrosarcoma: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.
Sequence Similarities: Belongs to the glycosyltransferase 47 family.
Cellular Location: Endoplasmic reticulum membrane. Golgi apparatus membrane.

The EXT1/EXT2 complex is localized in the Golgi apparatus.
Database Links:
  • Entrez Gene: 2131?Human
  • Entrez Gene: 14042?Mouse
  • Omim: 608177?Human
  • SwissProt: Q16394?Human
  • SwissProt: P97464?Mouse
  • Unigene: 492618?Human
  • Unigene: 309395?Mouse
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    Synonyms:
  • 4-alpha-N-acetylglucosaminyltransferase Antibody
  • exostoses (multiple) 1 Antibody
  • Exostosin 1 Antibody
  • Exostosin glycosyltransferase 1 Antibody
  • Exostosin-1 Antibody
  • EXT Antibody
  • Ext1 Antibody
  • EXT1_HUMAN Antibody
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan Antibody
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Antibody
  • Langer-Giedion syndrome chromosome region Antibody
  • LGCR Antibody
  • LGS Antibody
  • Multiple exostoses protein 1 Antibody
  • Multiple exostoses protein 1 homolog Antibody
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Antibody
  • Putative tumor suppressor protein EXT1 Antibody
  • TRPS2 Antibody
  • TTV Antibody
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    Information: Target information shown above is from the UniProt Consortium.
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