Aliases for OSTM1 Gene
External Ids for OSTM1 Gene
Previous GeneCards Identifiers 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 Infantile Osteopetrosis With Neuroaxonal Dysplasia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.
UniProtKB/Swiss-Prot for OSTM1 Gene
Required for osteoclast and melanocyte maturation and function.