Recombinant Human Exostosin-2 (EXT2), Truncated

Uniprot Id

Q93063

Target Species

Human

Target Name

EXT2

Target Full Name

Exostosin-2

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 2 (EXT2); Potocki-Shaffer syndrome (POSHS); Seizures, scoliosis, and macrocephaly syndrome (SSMS)

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

Exostoses (multiple) 2; Exostosin 2; Exostosin-2; EXT2; EXT2_HUMAN; Glucuronosyl N acetylglucosaminyl proteoglycan 4 alpha N acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2; N acetylglucosaminyl proteoglycan 4 beta glucuronosyltransferase; Putative tumor suppressor protein EXT2; SOTV

Target Background

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.