人 APTX (NM_001195250) cDNA克隆

Accession: NM_001195250
基因名称: APTX
基因别名: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
基因描述: Homo sapiens aprataxin (APTX), transcript variant 8, mRNA.
种属: Human
CDS区长度: 909 (查看编码区序列)
翻译后氨基酸长度: 302 (查看氨基酸序列)
Transcript Variant: This variant (8) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform f, which is shorter than isoform a.
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G107807 人 APTX (NM_001195250) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]