A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
- Cited forINVOLVEMENT IN MC1DN37, VARIANT MC1DN37 CYS-47, CHARACTERIZATION OF VARIANT MC1DN37 CYS-47, FUNCTION
- CategoriesFunction, Sequences, Disease & Variants
- SourceUniProtKB reviewed (Swiss-Prot)