Entrez gene ID | | 28962 |
Official gene symbol | | OSTM1 |
Full name | | osteopetrosis associated transmembrane protein 1 |
Aliases | | ,GIPN,GL,HSPC019,OPTB5, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6q21 |
Gene position | | 108395941 - 108362613 Map Viewer |
Gene orientation | | minus |
Gene size | | 33329 bp |
Gene sequence |
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OMIM ID | | 607649 |
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