COX15 (cytochrome c oxidase assembly homolog COX15)

2007-04-01  

Identity

HGNC
LOCATION
10q24.2
LOCUSID
ALIAS
CEMCOX2,MC4DN6
FUSION GENES

Other Information

Locus ID:

NCBI: 1355
MIM: 603646
HGNC: 2263
Ensembl: ENSG00000014919

Variants:

dbSNP: 1355
ClinVar: 1355
TCGA: ENSG00000014919
COSMIC: COX15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000014919ENST00000016171Q7KZN9
ENSG00000014919ENST00000370483Q7KZN9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Porphyrin and chlorophyll metabolismKEGGko00860
Oxidative phosphorylationKEGGhsa00190
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124741432003Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.63
200497012009Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.28
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
152350262004Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.13
269408732016Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.10
198269012009Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.8
198269012009Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.8
179450212007Enhancement of cell proliferation in various mammalian cell lines by gene insertion of a cyclin-dependent kinase homolog.5

Citation

Dessen P

COX15 (cytochrome c oxidase assembly homolog COX15)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47442/cox15