Primary Identifier | MGI:96622 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 16434 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dITP diphosphatase activity. Acts upstream of or within ITP catabolic process and chromosome organization. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); developmental and epileptic encephalopathy 35; hepatitis C; rheumatoid arthritis; and thrombocytopenia. Orthologous to human ITPA (inosine triphosphatase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles. [provided by MGI curators] |