SCO1

Chr 17AR

synthesis of cytochrome C oxidase 1

Also known as: MC4DN4, SCOD1

NCBI Gene: 6341 ENSG00000133028 UniProt: O75880 OMIM: 603644

The protein functions as a copper metallochaperone essential for assembly of cytochrome c oxidase (complex IV) by facilitating incorporation of subunits 1 and 2 into the holoenzyme within the mitochondrial inner membrane. Mutations cause mitochondrial complex IV deficiency with autosomal recessive inheritance through a predicted dominant-negative mechanism. The low pLI score indicates tolerance to heterozygous loss-of-function variants, consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 4MIM #619048

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

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

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P/LP missense

0.99

LOEUF

LOF

Mechanism· G2P