人 NGLY1 (NM_001145295) cDNA克隆

Accession: NM_001145295
基因名称: NGLY1
基因别名: PNG1; CDG1V; PNGase
基因描述: Homo sapiens N-glycanase 1 (NGLY1), transcript variant 4, mRNA.
种属: Human
CDS区长度: 1677 (查看编码区序列)
翻译后氨基酸长度: 558 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
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G121587 人 NGLY1 (NM_001145295) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]