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.
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Protein Aliases: Chloride channel 7 beta subunit; CLCN7 accessory beta subunit; GAIP-interacting protein N terminus; GIPN; grey lethal osteopetrosis; grey-lethal osteopetrosis; Grey-lethal protein; HSPC019; OPTB5; Osteopetrosis-associated transmembrane protein 1; OSTM1; UNQ6098/PRO21201
Gene Aliases: 1200002H13Rik; GIPN; GL; HSPC019; OPTB5; OSTM1; UNQ6098/PRO21201