人 APTX (NM_001195252) cDNA克隆

Accession: NM_001195252
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 11, mRNA.
种属: Human
CDS区长度: 855 (查看编码区序列)
翻译后氨基酸长度: 284 (查看氨基酸序列)
Transcript Variant: This variant (11) has multiple differences compared to variant 1. These differences result in translation initiation at an upstream ATG and an isoform (i) with a longer N-terminus but an overall shorter length compared to isoform a.
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G107809 人 APTX (NM_001195252) 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]