Description
Product Characteristics:
The GTPase of the immunity-associated protein (GIMAP) family of proteins include seven members that are expressed by genes residing on human chromosome 7. GIMAP proteins have been implicated in the regulation of lymphomyeloid cell survival. GIMAP7 (GTPase IMAP family member 7), also known as IAN7 (immunity-associated nucleotide 7), is a 300 amino acid protein encoded by a gene that maps to human chromosome 7q36.1. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Subcellular location: Cytoplasm
Synonyms: GTPase IMAP family member 7, hIAN7, IAN 7, IAN7, Immune associated nucleotide, immunity associated nucleotide 7 protein, MGC27027, GIMA7_HUMAN.
Target Information: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]