Gene: RXYLT1
Alternate names for this Gene: HP10481|MDDGA10|TMEM5
Gene Summary: This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 12
Location in Chromosome : 12q14.2
Description of this Gene: ribitol xylosyltransferase 1
Type of Gene: protein-coding