Aliases for OSTM1 Gene
External Ids for OSTM1 Gene
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
GeneCards Summary for OSTM1 Gene
OSTM1 (Osteopetrosis Associated Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with OSTM1 include osteopetrosis, autosomal recessive 5 and astley-kendall syndrome. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.
UniProtKB/Swiss-Prot for OSTM1 Gene
Required for osteoclast and melanocyte maturation and function.