DEGS2 Rabbit Polyclonal Antibody, 100ul Mini dry bath Like most members| the encoded

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

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

Mutations in this gene are associated with retinitis pigmentosa type 31

GO annotations related to this gene include cyclin-dependent protein serine/threonine kinase regulator activity

RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking

DEGS2 Rabbit Polyclonal Antibody, 100ul Mini dry bath Like most members| the encodedThis 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.