Variant: rs587777004 

    present in Gene: HNRNPU;COX20
    present in Chromosome: 1
    Position on Chromosome: 244842055
    Alleles of this Variant: A/C;G

rs587777004 in HNRNPU;COX20 gene and Cytochrome-c Oxidase Deficiency PMID 24202787 2014 Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

PMID 23125284 2013 A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

PMID 29154948 2018 The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.