• Gene id: 79145

Gene Summary

• Gene Symbol: CHCHD7   Gene   UCSC   Ensembl
• Aliases: COX23
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 7
• Alternate names: coiled-coil-helix-coiled-coil-helix domain-containing protein 7, COX23 cytochrome c oxidase assembly homolog,
• Gene location: 8q12.1 (56211637: 56218808)     Exons: 6     NC_000008.11
• OMIM: 611238

Protein Summary

• Protein general information: Q9BUK0  
  • Name: Coiled coil helix coiled coil helix domain containing protein 7
  • Length: 85  
  • Mass: 10095
• Sequence:

  MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRKNGVKPFMPTAAERDE
  ILRAVGNMPY

• Structural information:
  • Protein Domains: (13..5-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR009069  
  • Prosite: PS51808
  • PDB: 2LQT
  • PDBsum: 2LQT
  • STRING: ENSP00000306425
• Other Databases: GeneCards:  CHCHD7  Malacards:  CHCHD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)