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
281998442017MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.49
281998442017MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.49
244623692014A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.32
244623692014A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.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.48
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.48
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.48
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.48

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-(pet100-cytochrome-c-oxidase-chaperone)