人 AGA (NM_001171988) cDNA克隆

Accession: NM_001171988
基因名称: AGA
基因别名: GA; AGU; ASRG
基因描述: Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1011 (查看编码区序列)
翻译后氨基酸长度: 336 (查看氨基酸序列)
Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
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G114926 人 AGA (NM_001171988) cDNA克隆 pDONR223 2ug质粒 点击询价

Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010]