• Source: EXT1

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.




Interactions


EXT1 has been shown to interact with TRAP1.




See also


Langer–Giedion syndrome
Hereditary multiple exostoses type 1




References






Further reading






External links


Multiple Hereditary Exostoses Research Foundation

Kata Kunci Pencarian:

• Osteokondroma
• Daftar gen penyandi protein pada manusia/2
• EXT1
• Osteochondroma
• Ext functor
• Whitehead problem
• Hereditary multiple exostoses
• EXT2 (gene)
• Administrative distance
• Axiom of constructibility
• Membranous glomerulonephritis
• Glycosaminoglycan