NDUFA8

Chr 9

NADH:ubiquinone oxidoreductase subunit A8

Also known as: CI-19KD, CI-PGIV, MC1DN37, PGIV

NCBI Gene: 4702 ENSG00000119421 UniProt: P51970

The protein is an accessory subunit of mitochondrial respiratory chain complex I that functions in electron transfer from NADH to ubiquinone. Biallelic mutations cause mitochondrial complex I deficiency, nuclear type 37, inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired mitochondrial respiratory chain function leading to cellular energy deficiency.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 37

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.72

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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