DEGS2 Rabbit Polyclonal Antibody, 100ul Mini dry bath Mutations in this gene are

Mutations in this gene are associated with retinitis pigmentosa type 31

A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls| and repeat numbers in excess of 40 have been described as pathological

MIM 191315)

Like most members| the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain

This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family

DEGS2 Rabbit Polyclonal Antibody, 100ul Mini dry bath Mutations in this gene areThis gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid containing tissues. This enzyme can act as a sphingolipid delta(4) desaturase and also as a sphingolipid C4 hydroxylase.