UGT8
Description
The UGT8 (UDP glycosyltransferase 8) is a protein-coding gene located on chromosome 4.
The UGT8 gene encodes an enzyme called 2-hydroxyacylsphingosine 1-beta-galactosyltransferase. This enzyme is involved in the production of galactocerebrosides, important sphingolipids found in the myelin membrane of both the central and peripheral nervous systems. Galactocerebrosides are also found in smaller amounts in the kidney. The primary function of the UGT8 gene-encoded enzyme is to transfer galactose to ceramide, a crucial step in galactocerebroside biosynthesis. This enzyme is the first in the complex lipid biosynthesis pathway within myelin-producing oligodendrocytes.
UGT8 is also known as CGT, UGT4.
Associated Diseases
- urolithiasis
- null syndrome
- benign adult familial myoclonic epilepsy
- Charcot-Marie-Tooth disease type 4F
- spastic ataxia 2
- hereditary neuropathy with liability to pressure palsies
- Charcot-Marie-Tooth disease type 4J
