人 APTX (NM_001195251) cDNA克隆

基本信息

Accession: NM_001195251
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 9, mRNA.
种属: Human
CDS区长度: 879 (查看编码区序列)
翻译后氨基酸长度: 292 (查看氨基酸序列)
Transcript Variant: This variant (9) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant encodes isoform g, which has a shorter and distinct C-terminus, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G107808 人 APTX (NM_001195251) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 APTX (NM_175073) cDNA克隆 transcript variant 1
人 APTX (NM_001195254) cDNA克隆 transcript variant 10
人 APTX (NM_001195252) cDNA克隆 transcript variant 11
人 APTX (NM_175069) cDNA克隆 transcript variant 2
人 APTX (NM_175071) cDNA克隆 transcript variant 5
人 APTX (NM_001195248) cDNA克隆 transcript variant 6
人 APTX (NM_001195249) cDNA克隆 transcript variant 7
人 APTX (NM_001195250) cDNA克隆 transcript variant 8
人 APTX (NM_001195251) cDNA克隆 transcript variant 9

基因简介

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]

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