Rabbit anti-Human EXT1 Polyclonal Antibody

Uniprot Id

Q16394

Target Species

Human

Target Name

EXT1

Target Full Name

Exostosin-1

Target 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.

Target Involvement

Hereditary multiple exostoses 1 (EXT1); Tricho-rhino-phalangeal syndrome 2 (TRPS2); Chondrosarcoma (CHDSA)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Target Protein Families

Glycosyltransferase 47 family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

4-alpha-N-acetylglucosaminyltransferase; exostoses (multiple) 1; Exostosin 1; Exostosin glycosyltransferase 1; Exostosin-1; EXT; EXT1; EXT1_HUMAN; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan; Langer-Giedion syndrome chromosome region; LGCR; LGS; Multiple exostoses protein 1; Multiple exostoses protein 1 homolog ; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT1; TRPS2; TTV

Target Background

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.