• Gene id: 91574

Gene Summary

• Gene Symbol: C12orf65   Gene   UCSC   Ensembl
• Aliases: COXPD7, SPG55
• Gene name: chromosome 12 open reading frame 65
• Alternate names: probable peptide chain release factor C12orf65, mitochondrial,
• Gene location: 12q24.31 (123233435: 123257959)     Exons: 5     NC_000012.12
• Gene summary(Entrez): This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitoc
• OMIM: 613541

Protein Summary

• Protein general information: Q9H3J6  
  • Name: Probable peptide chain release factor C12orf65, mitochondrial
  • Length: 166  
  • Mass: 18828
• Sequence:

  MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGPGGQAT
  NKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLE
  KKKLLKELWESSKKVH

• Structural information:
  • Interpro: IPR000352  
  • STRING: ENSP00000253233
• Other Databases: GeneCards:  C12orf65  Malacards:  C12orf65

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005762	mitochondrial large ribosomal subunit	IBA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0003747	translation release factor activity	IEA	molecular function
GO:0006415	translational termination	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Combined oxidative phosphorylation deficiency	KEGG:H00891
Hereditary spastic paraplegia	KEGG:H00266
Combined oxidative phosphorylation deficiency	KEGG:H00891
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray