• Gene id: 400916

Gene Summary

• Gene Symbol: CHCHD10   Gene   UCSC   Ensembl
• Aliases: C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 10
• Alternate names: coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial, MIX17 homolog A,
• Gene location: 22q11.23 (23767971: 23765833)     Exons: 4     NC_000022.11
• Gene summary(Entrez): This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyo
• OMIM: 609146

Protein Summary

• Protein general information: Q8WYQ3  
  • Name: Coiled coil helix coiled coil helix domain containing protein 10, mitochondrial (Protein N27C7 4)
  • Length: 142  
  • Mass: 14149
  • Tissue specificity: Ubiquitously expressed. Higher expression is observed in heart and liver. {ECO
• Sequence:

  MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALTGAFSG
  GSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP

• Structural information:
  • Protein Domains: (99..14-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR010625  
  • Prosite: PS51808
  • STRING: ENSP00000418428
• Other Databases: GeneCards:  CHCHD10  Malacards:  CHCHD10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0007005	mitochondrion organization	IBA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0007005	mitochondrion organization	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0006119	oxidative phosphorylation	IMP	biological process
GO:0007005	mitochondrion organization	IMP	biological process
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0061617	MICOS complex	IDA	cellular component
GO:1903852	positive regulation of cristae formation	IMP	biological process
GO:1903109	positive regulation of mitochondrial transcription	ISS	biological process
GO:0007005	mitochondrion organization	IMP	biological process
GO:0090144	mitochondrial nucleoid organization	IMP	biological process
GO:0099558	maintenance of synapse structure	ISS	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0065003	protein-containing complex assembly	IMP	biological process
GO:0030322	stabilization of membrane potential	ISS	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP	biological process
GO:0051457	maintenance of protein location in nucleus	ISS	biological process

Diseases

Associated diseases	References
Frontotemporal dementia and amyotrophic lateral sclerosis	KEGG:H02342
Frontotemporal dementia and amyotrophic lateral sclerosis	KEGG:H02342
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881