人 ASPA (NM_001128085) cDNA克隆

Accession: NM_001128085
基因名称: ASPA
基因别名: ASP; ACY2
基因描述: Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.
种属: Human
CDS区长度: 942 (查看编码区序列)
翻译后氨基酸长度: 313 (查看氨基酸序列)
Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same protein, as compared to variant 1.
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G101155 人 ASPA (NM_001128085) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]