Aliases for TMEM5 Gene
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 Muscular Dystrophy-Dystroglycanopathy , Type A, 10 and Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 10. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism.
UniProtKB/Swiss-Prot for TMEM5 Gene
UDP-xylosyltransferase 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 (PubMed:25279699, PubMed:27130732, PubMed:27733679, PubMed:27601598). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (PubMed:27130732, PubMed:27733679).