calcium homeostasis modulator 1(CALHM1) Homo sapiens This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010],
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Function:
Function:May be a pore-forming ion channel. Controls cytosolic Ca(2+) permeability and cytosolic Ca(2+) concentration. Controls amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.,polymorphism:Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism, and may be a risk factor for the development of Alzheimer's disease.,similarity:Belongs to the FAM26 family.,subcellular location:Colocalizes with HSPA5 at the endoplasmic reticulum.,subunit:Homooligomer; homomultimerized to form dimeric and possibly tetrameric structures.,tissue specificity:Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells.,
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Cellular Localization:
Cell membrane; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein . Colocalizes with HSPA5 at the endoplasmic reticulum (PubMed:18585350). Localizes to the basolateral membrane of epithelial cells including taste cells (By similarity). .