Q9BY32

ITPA is also known as ITPase is a 194 amino acid protein. ITPA plays a crucial role in nucleotide metabolism by catalyzing the conversion of inosine triphosphate (ITP) and deoxyinosine triphosphate (dITP) into inosine monophosphate (IMP) and diphosphate. This enzymatic activity is vital for maintaining the balance of nucleotide pools within the cell, as an excess of ITP can lead to cellular dysfunction and has been implicated in various pathological conditions. ITPA is predominantly localized in the cytoplasm and is highly expressed in tissues such as the heart, liver, sex glands, thyroid, and adrenal glands. Deficiencies in ITPA can result in an accumulation of ITP in erythrocytes, leukocytes, and fibroblasts, which is thought to be inherited and can lead to significant metabolic disturbances.