- 商品货号:F144256
- accession:NM_000157
- 基因别名:GBA
- 基因描述:Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:1611
- 翻译后氨基酸长度:536
- TranscriptVariant:This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform 1.
- 基因简介: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]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列