PET100 (PET100 cytochrome c oxidase chaperone)

2014-11-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
C19orf79,MC4DN12

Other Information

Locus ID:

NCBI: 100131801
MIM: 614770
HGNC: 40038
Ensembl: ENSG00000229833

Variants:

dbSNP: 100131801
ClinVar: 100131801
TCGA: ENSG00000229833
COSMIC: PET100

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000229833ENST00000456958A0A0A0MSK2
ENSG00000229833ENST00000594797P0DJ07
ENSG00000229833ENST00000598540M0QZ55
ENSG00000229833ENST00000601406M0R022

Expression (GTEx)

0
5
10
15
20
25
30
35

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
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
244623692014A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.0

Citation

Dessen P

PET100 (PET100 cytochrome c oxidase chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71829/pet100