COX16 Chromosome 14

Cytochrome c oxidase assembly factor COX16

1 variant 1 Health Risk

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What This Gene Does

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 22. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Mitochondrial respiratory chain complex assembly factors

Locus Type

gene with protein product

Location

14q24.2

Ensembl

ENSG00000133983

Associated Conditions (2)

Mitochondrial complex IV deficiency

nuclear type 22

Key Variants

RS781059799

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 22, Mitochondrial complex IV deficiency

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS781059799	Health Risk	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 22, Mitochondrial complex IV deficiency