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| Red cell disorders v2.0 | NMNAT3 | Gene migrated from ENSG00000163864 to ENSG00000163864 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.36 | NMNAT3 | chirag patel Marked gene: NMNAT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.36 | NMNAT3 | chirag patel Gene: nmnat3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.36 | NMNAT3 |
chirag patel gene: NMNAT3 was added gene: NMNAT3 was added to Red cell disorders. Sources: Literature Mode of inheritance for gene: NMNAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT3 were set to 41100733, 24739386 Phenotypes for gene: NMNAT3 were set to Familial hemolytic anemia, MONDO:0003689 Review for gene: NMNAT3 was set to RED Added comment: NMNAT is an enzyme that plays a key role in the de novo biosynthesis and salvage of NAD+. Three isoforms of NMNAT exist in mammals (NMNAT1-3), and NMNAT3 is the predominant isoform in RBCs. PMID:41100733 2 siblings from 1 consanguineous Turkish family with adolescent‑onset hereditary haemolytic anemia, splenomegaly and mild compensated haemolysis. Research based gene panel identified a homozygous variant in NMNAT3 gene (c.64C>T, (p.His22Tyr)) which is absent in gnomAD and located in the adenosine triphosphate (ATP) binding domain. Segregation showed mother was heterozygous and an unaffected sibling was wild-type. Functional assays demonstrated absent NMNAT activity; decreased levels of NAD+, NADH, NAM, and NMN; and disturbed glycolysis. They noted partial hematologic improvement after NAD precursor supplementation. No contradictory evidence is reported. PMID: 24739386 They showed that complete knockout of NMNAT3 in mice caused depletion of NAD+ and disturbed glycolytic flow in mature RBCs, resulting in haemolytic anemia and splenomegaly. Sources: Literature |
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