Osteopetrosis Associated Transmembrane Protein 1 (OSTM1)

Osteopetrosis-associated transmembrane protein 1 is 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.The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.