NME3

Chr 16

NME/NM23 nucleoside diphosphate kinase 3

Also known as: DR-nm23, NDK3, NDPK-C, NDPKC, NM23-H3, NM23H3, c371H6.2

NCBI Gene: 4832 ENSG00000103024 UniProt: Q13232

The NME3 protein functions as a nucleoside diphosphate kinase that maintains nucleoside triphosphate homeostasis and plays critical roles in mitochondrial membrane fusion and DNA repair. Mutations cause autosomal recessive nephronophthisis, a ciliopathy presenting with progressive kidney disease that can lead to end-stage renal failure in childhood or adolescence. The gene shows minimal constraint against loss-of-function variants (very low pLI), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Enables several functions, including mitochondrion-mitochondrion outer membrane tether activity; nucleoside diphosphate kinase activity; and purine ribonucleotide binding activity. Involved in several processes, including dTTP biosynthetic process; mitochondrial outer membrane fusion; and protein hexamerization. Located in cytoplasm. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429