人 ITPA (NM_001267623) cDNA克隆

基本信息

Accession: NM_001267623
基因名称: ITPA
基因别名: My049; C20orf37; dJ794I6.3; HLC14-06-P
基因描述: Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 3, mRNA.
种属: Human
CDS区长度: 462 (查看编码区序列)
翻译后氨基酸长度: 153 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G108035 人 ITPA (NM_001267623) 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 ITPA (NM_033453) cDNA克隆 transcript variant 1
人 ITPA (NM_181493) cDNA克隆 transcript variant 2
人 ITPA (NM_001267623) cDNA克隆 transcript variant 3

基因简介

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

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