Glucosylceramidase beta (GBA) Rabbit mAb

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Glucosylceramidase beta (GBA) Rabbit mAb

In stock

GBA; GCB; GLUC

SKU: A19057 分类: ,
货号 A19057
产品名称Glucosylceramidase beta (GBA) Rabbit mAb
供货商名称 Syd Labs, Inc.
品牌名 Syd Labs
别称 GBA; GCB; GLUC
基因名称 GBA1
蛋白名 GBA1
Uniprot/Swissprot ID P04062
Entrez GeneID 2629
克隆号 ARC0500
克隆性 Monoclonal
来源 Rabbit
反应性 Human, Rat
偶联 Unconjugated
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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.

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