Version 2.78

Description

The ITPA gene on chromosome 20q13 encodes the protein inosine triphosphate pyrophosphatase, which hydrolyzes inosine triphosphate (ITP) and deoxyinosine triphosphate. Variants in the ITPA gene lead to inosine triphosphate pyrophosphatase deficiency (ITPAD),which is characterized by the abnormal accumulation of ITP in erythrocytes. The accumulation of ITP can be beneficial in that it can substitute for guanosine triphosphate (GTP) in a reaction that leads to ATP production. PMID: 28480960 ITPA gene polymorphisms have been associated with anemia in patients with Hepatitis C who are on antiviral therapy with pegylated-interferon (PEG-IFN) and ribivarin (RBV). For rs1127354 (ITPA gene g.9330C>A), patients with the wild type CC genotype were more likely to develop anemia and had faster declines in hemoglobin compared to those with C/A or A/A genotypes. PMID: 26916827 Similarly, patients with the wild type AA genotype at rs7270101 (ITPA gene g.9381A>C) were more likely to experience a drop in hemoglobin compared to those with the A/C or C/C genotypes. PMID: 23933495 Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
ITPA gene g.9381A>C
Part Type
Component (Describes the core component or analyte measured)
Created On
2018-09-04
Construct for LOINC Short Name
ITPA g.9381A>C

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP268429-0

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) g.9381A>C del gen ITPA
it-IT Italian (Italy) ITPA, gene.g.9381A>C
Synonyms: Gene ITPA.g.9381A>C
zh-CN Chinese (China) ITPA 基因.g.9381A>C
Synonyms: 三磷酸肌苷焦磷酸酶;Inosine triphosphate pyrophosphatase;ITPA;C20orf37;HLC14-06-P;dJ794I6.3;My049;ITPase;NTPase