| NDUFS6 — NADH:Ubiquinone Oxidoreductase Core Subunit S6 | |
|---|---|
| Gene Symbol | NDUFS6 |
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S6 |
| Chromosomal Location | 5p14.3 |
| NCBI Gene ID | 4729 |
| Ensembl ID | ENSG00000145494 |
| UniProt ID | O75306 |
| Associated Diseases | Leigh Syndrome, Mitochondrial Complex I Deficiency, MELAS |
NDUFS6 encodes the NADH:ubiquinone oxidoreductase core subunit S6, also known as TYKY, which is a critical component of mitochondrial complex I (NADH:ubiquinone oxidoreductase). Complex I is the largest enzyme of the mitochondrial electron transport chain, consisting of 44 subunits.
NDUFS6 is a 13 kDa iron-sulfur protein that contains:
The protein is essential for:
Recessive mutations in NDUFS6 cause classic Leigh syndrome:
NDUFS6 mutations cause isolated complex I deficiency:
Some NDUFS6 variants contribute to MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes).
NDUFS6 is ubiquitously expressed with highest levels in: