Species Human Entrez 28962 | Human Mouse Ensembl ENSG00000081087 | |
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Aliases OSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1 External IDs MGI: 2655574 HomoloGene: 32203 GeneCards: OSTM1 | ||
Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene. It is required for osteoclast and melanocyte maturation and function.
Contents
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 autosomal recessive Albers-Schonberg disease.
The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.
Interactions
OSTM1 has been shown to interact with RGS19.