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簡(jiǎn)要描述:This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
產(chǎn)品型號(hào):bsm-61555R
廠商性質(zhì):生產(chǎn)廠家
更新時(shí)間:2025-03-01
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