TACO1

Chr 17AR

translational activator of cytochrome c oxidase I

Also known as: CCDC44, MC4DN8

NCBI Gene: 51204 ENSG00000136463 UniProt: Q9BSH4 OMIM: 612958

The protein functions as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations cause mitochondrial complex IV deficiency (nuclear type 8) and Leigh syndrome through autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 8MIM #619052

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TACO1