OSTM1
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| Osteopetrosis-associated transmembrane protein 1 precursor | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | OSTMP1 | ||||||||
| Pfam | PF09777 | ||||||||
| InterPro | IPR019172 | ||||||||
| |||||||||
Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.[1][2][3] It is required for osteoclast and melanocyte maturation and function.[1]
Function
[edit | edit source]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.[3] This is also known as autosomal recessive Albers-Schonberg disease.[1][4]
The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[5][6]
Interactions
[edit | edit source]OSTM1 has been shown to interact with RGS19.[7]
References
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Further reading
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