MT-ND5 across dismech

MT-ND5 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5) is named by 2 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-ND5 (0 terms), because no review of the gene existed when it was pinned. An upstream review is being added. It describes ND5 as the distal antiporter-like subunit that translocates protons and contributes to the complex's NADH:ubiquinone oxidoreductase activity.

Causative records

One entry types MT-ND5 as causative: MELAS Syndrome. It records the variants as germline (germline). In MELAS Syndrome the gene sits on the node Complex I structural subunit defect.

Leigh syndrome

Leigh Syndrome places MT-ND5 on the node Complex I deficiency, but has no genetic record for the gene (Leigh Syndrome). The KB's mechanism annotations for MT-ND5 name the process mitochondrial electron transport, NADH to ubiquinone.

Where the layers disagree

ClinGen classifies MT-ND5 for 2 diseases. ClinGen rates it definitive for Leigh syndrome, the entry that lacks a genetic record for it. The ClinGen disease with no matching dismech entry is mitochondrial disease. Because the pinned ai-gene-review snapshot has no core functions for the gene, the KB and ai-gene-review currently share 0 GO process terms.