NDUFA1 across dismech

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1) is named by 1 disorder entry.

Normal function

ai-gene-review gives NDUFA1's core molecular function as structural molecule activity, acting in mitochondrial electron transport, NADH to ubiquinone; and mitochondrial respiratory chain complex I assembly. The upstream review describes NDUFA1 as an accessory (supernumerary) membrane-arm subunit of complex I rather than one of the catalytic core subunits, which is why the review records the NADH dehydrogenase (ubiquinone) activity as something it contributes to rather than enables.

Disease record

The one entry naming NDUFA1, Mitochondrial Complex I Deficiency, Nuclear Type 12, types it as causative and records the variants as germline. The gene sits on the node NDUFA1 Loss of Function, and nodes naming it conform to the module complex_i_deficiency.

No process term on the KB's NDUFA1 nodes matches an ai-gene-review core process by exact identifier (0 shared); the entry records the gene's normal function as molecular-function and assembly terms on the nodes downstream of the gene node instead.

ClinGen

ClinGen classifies NDUFA1 for 2 diseases. The one with no dismech entry is mitochondrial disease, and the dismech entries matched to a ClinGen disease for NDUFA1 that do not type the gene are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome.