Gene: ITPA

Alternate names for this Gene: C20orf37|DEE35|HLC14-06-P|ITPase|My049|NTPase|dJ794I6.3

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: inosine triphosphatase

Type of Gene: protein-coding

rs1127354 in ITPA gene and Anemia PMID 20637204 2010 Multivariate analysis demonstrated that age, baseline Hb, baseline platelet count, and rs1127354 were independently associated with severe anemia (Hb <10 g/dL).

rs746930990 in ITPA gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 PMID 26224535 2015 Recessive ITPA mutations cause an early infantile encephalopathy.

rs1127354 in ITPA gene and Hepatitis C, Chronic PMID 20173735 2010 ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.

PMID 21659334 2011 Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.