人 GBA3 (NM_001128432) cDNA克隆

基本信息

Accession: NM_001128432
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 2, mRNA.
种属: Human
CDS区长度: 489 (查看编码区序列)
翻译后氨基酸长度: 162 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks two alternate exons resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) has the same N- and C-termini but is shorter compared to 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
G118604 人 GBA3 (NM_001128432) 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]

相关产品