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OSTM1
osteopetrosis associated transmembrane protein 1
OSTM1 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.
| Gene Name: | osteopetrosis associated transmembrane protein 1 |
| Synonyms: | OSTM1, Grey-lethal osteopetrosis, GL, HSPC019, OPTB5, GIPN |
| Target Sequences: | NM_014028 NP_054747.2 Q86WC4 |
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