COX20
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COX20 (HGNC:26970) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome c oxidase assembly factor COX20
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FAM36A
Alias symbols
FLJ43269
%HI
46.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.06(Read more about gnomAD pLI score)
LOEUF
1.93(Read more about gnomAD LOEUF score)
Cytoband
1q44
Genomic Coordinates
GRCh37/hg19: chr1:244998608-245008365 NCBI Ensembl UCSC
GRCh38/hg38: chr1:244835306-244845063 NCBI Ensembl UCSC
MANE Select Transcript
NM_198076.6 ENST00000411948.7 (Read more about MANE Select)
Function
Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053). {ECO:0000269|PubMed:23125284, ECO:0000269|PubMed:2... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36264
ClinGen Curation ID:
CCID:006921
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cytochrome-c oxidase deficiency disease Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)