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簡(jiǎn)要描述:This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
產(chǎn)品型號(hào):bsm-52907R
廠商性質(zhì):生產(chǎn)廠家
更新時(shí)間:2025-02-28
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