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)
Triplosensitivity:
Not Yet Evaluated
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)