人 GLB1 (NM_001135602) cDNA克隆

Accession: NM_001135602
基因名称: GLB1
基因别名: EBP; ELNR1; MPS4B
基因描述: Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1641 (查看编码区序列)
翻译后氨基酸长度: 546 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks alternate exons, compared to variant 1, resulting in a shorter protein (c) compared to isoform a.
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G113721 人 GLB1 (NM_001135602) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]