Rabbit anti-Human ITPA Polyclonal Antibody

Uniprot Id

Q9BY32

Target Species

Human

Target Name

ITPA

Target Full Name

Inosine triphosphate pyrophosphatase

Target Function

Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.

Target Involvement

Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD); Epileptic encephalopathy, early infantile, 35 (EIEE35)

Target Subcellular Location

Cytoplasm.

Target Protein Families

HAM1 NTPase family

Target Tissue Specificity

Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Target Research Area

Signal Transduction

Target Synonyms

C20orf37; dJ794I6.3; HLC14-06-P; Inosine triphosphatase (nucleoside triphosphate pyrophosphatase); Inosine triphosphatase; inosine triphosphatase-A; Inosine triphosphate pyrophosphatase; Inosine triphosphate pyrophosphohydrolase; Itpa; ITPA_HUMAN; ITPase; My049; My049 protein; Non canonical purine NTP pyrophosphatase; Non standard purine NTP pyrophosphatase; NTPase; nucleoside triphosphate diphosphatase; Nucleoside triphosphate pyrophosphatase; OK/SW-cl.9; OTTHUMP00000030094; OTTHUMP00000160459; Putative oncogene protein hlc14-06-p

Target Background

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.