COXFA4

Chr 7AR

cytochrome c oxidase associated subunit FA4

Also known as: CI-9k, CI-MLRQ, MC4DN21, MISTR1, MLRQ, MRCAF1, NDUFA4

NCBI Gene: 4697UniProt: O00483

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

?Mitochondrial complex IV deficiency, nuclear type 21MIM #619065
AR
55
ClinVar variants
18
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— COXFA4
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 13 VUS of 55 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/COXFA4?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic2
VUS13
Likely Benign21
Benign2
Conflicting1
16
Pathogenic
2
Likely Pathogenic
13
VUS
21
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
14
0
16
Likely Pathogenic
2
0
0
0
2
VUS
1
10
2
0
13
Likely Benign
0
0
15
6
21
Benign
0
0
2
0
2
Conflicting
—1
Total51033655

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

COXFA4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Mitochondrial complex IV deficiency, nuclear type 21

MIM #619065

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — COXFA4
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools