EXT2 : exostosin glycosyltransferase 2
Description
The EXT2 (exostosin glycosyltransferase 2) is a protein-coding gene located on chromosome 11.
The EXT2 gene provides instructions for making exostosin-2, a protein located in the Golgi apparatus, a cell structure responsible for modifying newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 binds to exostosin-1, forming a complex that modifies heparan sulfate, a molecule crucial for regulating various bodily processes including blood vessel formation (angiogenesis), blood clotting, and cancer cell spread (metastasis).
EXT2, along with EXT1, forms the heparan sulfate polymerase, a dimeric complex that catalyzes the elongation of the heparan sulfate glycan backbone. This elongation process involves the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. EXT2 specifically contributes the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity within this complex. Heparan sulfate proteoglycans are essential components of the extracellular matrix, playing a critical role in tissue homeostasis and signaling.
EXT2 is also known as SOTV, SSMS.
Associated Diseases
- Exostoses, multiple, type II
- Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- Potocki-Shaffer syndrome
- Multiple osteochondromas
- Seizures-scoliosis-macrocephaly syndrome
- Hereditary multiple osteochondromas
