PET117 (PET117 cytochrome c oxidase chaperone)

2014-11-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
CSRP2BP,MC4DN19
FUSION GENES

Other Information

Locus ID:

NCBI: 100303755
MIM: 614771
HGNC: 40045
Ensembl: ENSG00000232838

Variants:

dbSNP: 100303755
ClinVar: 100303755
TCGA: ENSG00000232838
COSMIC: PET117

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000232838ENST00000432901Q6UWS5
ENSG00000232838ENST00000432901L0R6F6

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223568262012Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.32
281998442017MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.16
283866242017Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.0

Citation

Dessen P

PET117 (PET117 cytochrome c oxidase chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71830/pet117