COA8 (cytochrome c oxidase assembly factor 8)

2014-11-01  

Identity

HGNC
COA8
LOCATION
14q32.33
LOCUSID
84334
ALIAS
APOP,APOP1,APOPT1,C14orf153,MC4DN17

Other Information

Locus ID:

NCBI: 84334
MIM: 616003
HGNC: 20492
Ensembl: ENSG00000256053

Variants:

dbSNP: 84334
ClinVar: 84334
TCGA: ENSG00000256053
COSMIC: COA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000256053ENST00000409074Q96IL0
ENSG00000256053ENST00000440963H7BZ67
ENSG00000256053ENST00000473127A0A0U1RQS9
ENSG00000256053ENST00000476323A0A0U1RQK3
ENSG00000256053ENST00000477116A0A0U1RQS9
ENSG00000256053ENST00000489117H0YJM4
ENSG00000256053ENST00000492189A0A0U1RQS9
ENSG00000256053ENST00000495778H0YJK3
ENSG00000256053ENST00000554876A0A0U1RR29
ENSG00000256053ENST00000555660H0YJ38
ENSG00000256053ENST00000556253G3V4L6

References

Pubmed IDYearTitleCitations
251753472014Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.30
251753472014Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.30
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

COA8 (cytochrome c oxidase assembly factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60438/new-content/deep-insight-explorer/