TMEM5 gene

transmembrane protein 5

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

From UniProt:

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [MIM:615041]

Cytogenetic Location: 12q14.2, which is the long (q) arm of chromosome 12 at position 14.2

Molecular Location: base pairs 63,779,803 to 63,809,558 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q14.2, which is the long (q) arm of chromosome 12 at position 14.2
  • HP10481
  • MDDGA10