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].
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.
Subunit:
Homooligomer; homomultimerized to form dimeric and possibly tetrameric structures.
Subcellular Location:
Cell membrane. Endoplasmic reticulum membrane. Colocalizes with HSPA5 at the endoplasmic reticulum.
Tissue Specificity:
Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells.
Similarity:
Belongs to the FAM26 family.
SWISS:
Q8IU99
Gene ID:
255022
Database links:
Entrez Gene: 255022 Human
Entrez Gene: 546729 Mouse
Entrez Gene: 499367 Rat
Omim: 612234 Human
SwissProt: Q8IU99 Human
Unigene: 136365 Human
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