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

rs1565898123 in RXYLT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 PMID 23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.