External Ids for TMEM5 Gene
Previous GeneCards Identifiers for TMEM5 Gene
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. [provided by RefSeq, May 2013]
GeneCards Summary for TMEM5 Gene
TMEM5 (Transmembrane Protein 5) is a Protein Coding gene. Diseases associated with TMEM5 include congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 10 and muscular dystrophy-dystroglycanopathy , type a, 10.
UniProtKB/Swiss-Prot for TMEM5 Gene
Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.