人 GBA3 (NM_001277225) cDNA克隆

基本信息

Accession: NM_001277225
基因名称: GBA3
基因别名: CBG; GLUC; KLRP; CBGL1
基因描述: Homo sapiens glucosidase, beta, acid 3 (GBA3), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1413 (查看编码区序列)
翻译后氨基酸长度: 470 (查看氨基酸序列)
Transcript Variant: This variant (3) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. This variant is produced from the more frequently occurring functional allele of this gene.

订购信息

产品编号 产品名称 载体 规格 价格
G118606 人 GBA3 (NM_001277225) 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 GBA3 (NM_020973) cDNA克隆 transcript variant 1
人 GBA3 (NM_001128432) cDNA克隆 transcript variant 2
人 GBA3 (NM_001277225) cDNA克隆 transcript variant 3

基因简介

The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]

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