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Gene : CHCHD10 Homo sapiens

Name  ? coiled-coil-helix-coiled-coil-helix domain containing 10 Cytological Location  22q11.23
Brief Description  coiled-coil-helix-coiled-coil-helix domain containing 10
Description  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 amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
  • synonyms:
  • MIX17A,
  • uc062cgg.1,
  • CHCHD10,
  • C22orf16,
  • AB050774,
  • OTTHUMG00000150736,
  • FTDALS2,
  • NM_213720,
  • MIX17 homolog A,
  • MIX17A,
  • chromosome 22 open reading frame 16,
  • HGNC:15559,
  • IMMD,
  • N27C7-4,
  • N27C7-4,
  • C22orf16,
  • SMAJ
  • identifiers:
  • 400916,
  • ENSG00000250479,
  • CHCHD10

Genome feature

Region: gene ? Length: 2139  
Location: 22:23765834-23767972 reverse strand Cyto location: 22q11.23


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results