人 GBA (NM_001171811) cDNA克隆

基本信息

Accession: NM_001171811
基因名称: GBA
基因别名: GCB; GBA1; GLUC
基因描述: Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA.
种属: Human
CDS区长度: 1350 (查看编码区序列)
翻译后氨基酸长度: 449 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G144261 人 GBA (NM_001171811) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 GBA (NM_000157) cDNA克隆 transcript variant 1
人 GBA (NM_001005741) cDNA克隆 transcript variant 2
人 GBA (NM_001005742) cDNA克隆 transcript variant 3
人 GBA (NM_001171811) cDNA克隆 transcript variant 4
人 GBA (NM_001171812) cDNA克隆 transcript variant 5

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]

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