NME3


Description

The NME3 (NME/NM23 nucleoside diphosphate kinase 3) is a protein-coding gene located on chromosome 16.

Nucleoside diphosphate kinase 3 (NME3) is an enzyme encoded by the NME3 gene in humans. It interacts with NME1 and NME2. Mutations in this gene are associated with congenital hypotonia, hypoventilation, and cerebellar histopathological alterations.

NME3 catalyzes the phosphorylation of ribonucleosides and deoxyribonucleoside diphosphates, other than ATP, into the corresponding triphosphates using ATP as the major phosphate donor. This process occurs via a ping-pong mechanism, utilizing a phosphorylated active-site intermediate. Through the exchange of gamma-phosphate between di- and triphosphonucleosides, NME3 contributes to the regulation of intracellular nucleotide homeostasis. Additionally, NME3 inhibits granulocyte differentiation and may be essential for ciliary function during renal development.

NME3 is also known as DR-nm23, NDPK-C, NDPKC, NM23-H3, NM23H3, c371H6.2.

Associated Diseases



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