OSTM1

Osteopetrosis-associated transmembrane protein 1 is a is_associated_with::protein that in humans is encoded by the OSTM1 is_associated_with::gene. It is required for is_associated_with::osteoclast and is_associated_with::melanocyte maturation and function.

Function
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. This is also known as is_associated_with::autosomal recessive is_associated_with::Albers-Schonberg disease.

The OSTM1 gene is regulated by the is_associated_with::Microphthalmia-associated transcription factor.

Interactions
OSTM1 has been shown to interact with is_associated_with::RGS19.