NDUFA5
NDUFA5 is a protein that in humans is encoded by the NDUFA5 gene. The protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.
Function[edit | edit source]
The NDUFA5 protein is one of about 31 hydrophobic subunits that form the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). This complex is the first enzyme of the mitochondrial electron transport chain. It functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Clinical significance[edit | edit source]
Mutations in the NDUFA5 gene are associated with mitochondrial complex I deficiency, which is a disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson's disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- NDUFA5 at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD