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

including cell adhesion and spreading

Cleaves gelatin chain alpha-2(I) > alpha-1(I)

MIM 191315)

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.