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SCARB2
Lysosome membrane protein 2 (LIMP-2) is a protein that in humans is encoded by the ''SCARB2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=950 )〕 LIMP-2 is expressed in brain, heart, liver, lung and kidney, mainly in the membrane of lysosome orgnelles; however, in cardiac muscle, LIMP-2 is also expressed at intercalated discs. LIMP-2 in a membrane protein in lysosomes that functions to regulate lysosomal/endosomal transport. Mutations in LIMP-2 have been shown to cause Gaucher disease, myoclonic epilepsy, and action myoclonus renal failure syndrome. Abnormal levels of LIMP-2 have also been found in patients with hypertrophic cardiomyopathy.
==Structure==
Human LIMP-2 has a theoretical molecular weight of 54.3 kDa and is 478 amino acids in length.〔(【引用サイトリンク】url=http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=Q14108 )〕
Though LIMP-2 was initially discovered in 1985 by Lewis et al. from rat liver lysosomes, LIMP-2 was cloned in 1992 by two groups, one isolated LIMP-2 from human metastatic pancreatic islet tumor cells, and one from rat liver lysosomal membranes. LIMP-2 was isolated as a protein of approximate molecular weight 85 kDa, synthesized from a precursor oform of approximately 77 kDa. The weight discrepancy between its theoretical (54.3 kDa) and observed (85 kDa) is due to the presence of 10 high mannose-type N-linked oligosaccharide chains in the human form of this protein, compared to 11 in mouse and rat. LIMP-2 has two hydrophobic regions, one near the N-terminus and one near the C-terminus, as well as a short isoleucine/leucine-rich cytoplasmic tail consisting of 20 amino acids that serves as the lysosomal targeting sequence. LIMP-2 has been shown to be expressed in brain, heart, liver, lung and kidney.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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