CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6)

2014-08-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
CHCM1,MICOS25,Mic25,PPP1R23
FUSION GENES

Other Information

Locus ID:

NCBI: 84303
MIM: 615634
HGNC: 28184
Ensembl: ENSG00000159685

Variants:

dbSNP: 84303
ClinVar: 84303
TCGA: ENSG00000159685
COSMIC: CHCHD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159685ENST00000290913Q9BRQ6
ENSG00000159685ENST00000503119J3QTB2
ENSG00000159685ENST00000508789J3QTA6
ENSG00000159685ENST00000513253H0Y922

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
361046022022A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease.0
361046022022A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease.0
265303282015Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.53
265303282015Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.53
222287672012CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.55
222287672012CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.55
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.87
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.87

Citation

Dessen P

CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54215/chchd6-(coiled-coil-helix-coiled-coil-helix-domain-containing-6)