菜单 基因医生

该基因编码一种肌苷三磷酸焦磷酸水解酶。编码蛋白水解肌苷三磷酸和脱氧肌苷三磷酸,得到一磷酸核苷酸和二磷酸。这种蛋白质是ham1 ntpase蛋白家族的一员,存在于细胞质中,起着同二聚体的作用。编码蛋白的缺陷可导致肌苷三磷酸焦磷酸化酶缺乏,从而导致红细胞中itp的积聚。交替剪接导致多个转录变体。[由RefSeq提供,2012年6月]
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]

基因名:ITPA
别名:My049,ITPase,NTPase,C20orf37,dJ794I6.3,HLC14-06-P
基因ID:3704
Chromosome:
(GRCh37)
20 Start: 3189514 End: 3204516 Strand: 
信号通路:  
ITPA 基因突变与药物