NDUFAF8

Protein identityUniProt · HPA

UniProt accession

A1L188

Gene

NDUFAF8

Ensembl

ENSG00000224877

Chromosome

17

Canonical length

74 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

74 residues, UniProt reviewed canonical sequence.

>A1L188|NDUFAF8
     1  MSANGAVWGR VRSRLRAFPE RLAACGAEAA AYGRCVQAST APGGRLSKDF CAREFEALRS
    61  CFAAAAKKTL EGGC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

163 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF8.

Disease | AllUniProt

Conditions NDUFAF8 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 34 (MC1DN34) MIM:618776

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 23 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 34
• Mitochondrial disease
• NDUFAF8-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.76

gnomAD pLI

0.14

DepMap mean gene effect

-0.51

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex I assembly

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8

KeywordsUniProt

• Disulfide bond
• Mitochondrion
• Primary mitochondrial disease

InteractionsUniProt · HPA

Protein binding partners of NDUFAF8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFAF5