(Osteopetrosis Associated Transmembrane Protein 1 (OSTM1))
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, Jul 2008].
Bosman, Estabel, Ismail, Podrini, White, Steel: "Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1." in: Mammalian genome : official journal of the International Mammalian Genome Society, Vol. 24, Issue 1-2, pp. 44-53, (2013) (PubMed).
Majumdar, Capetillo-Zarate, Cruz, Gouras, Maxfield: "Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes." in: Molecular biology of the cell, Vol. 22, Issue 10, pp. 1664-76, (2011) (PubMed).