NDUFS8 across dismech

NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) is named by 1 disorder entry.

Normal function

ai-gene-review gives NDUFS8's core molecular functions as 4 iron, 4 sulfur cluster binding; and NADH dehydrogenase (ubiquinone) activity, acting in mitochondrial electron transport, NADH to ubiquinone. The upstream review describes NDUFS8 as a catalytic core subunit of the complex I peripheral arm that carries two of the enzyme's [4Fe-4S] clusters.

Disease record

The one entry naming NDUFS8, Mitochondrial Complex I Deficiency, Nuclear Type 2, types it as causative and records the variants as germline. The gene sits on the node NDUFS8 Loss of Function, and nodes naming it conform to the module complex_i_deficiency.

No process term on the KB's NDUFS8 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 NDUFS8 for 2 diseases. The one with no dismech entry is mitochondrial disease, and the dismech entries matched to a ClinGen disease for NDUFS8 that do not type the gene are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome.