MT-ND6 across dismech

MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6) is named by 3 disorder entries. It is a mitochondrial-DNA-encoded core subunit of the membrane arm of respiratory complex I.

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no core functions for MT-ND6 (0 terms). An upstream review of the gene is being added or updated.

Causative records

The entries that type MT-ND6 as causative are Leber Hereditary Optic Neuropathy; Leber Optic Atrophy and Dystonia; MELAS Syndrome. Leber Hereditary Optic Neuropathy records the variants as germline and places the gene on the node Complex I Subunit Missense Mutation. MELAS Syndrome records them as germline and places the gene on Complex I structural subunit defect. In Leber Optic Atrophy and Dystonia the gene sits on the node , with the variants recorded as germline.

Where the layers disagree

ClinGen classifies MT-ND6 for 2 diseases, and rates it definitive for Leigh syndrome. The entries ClinGen classifies it for whose own records do not type it are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; Leigh Syndrome. The ClinGen disease with no matching dismech entry is mitochondrial disease. The KB's nodes naming MT-ND6 carry no GO process annotations (0 terms), so the KB and ai-gene-review share 0 GO process terms.