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Gene : HCCS Homo sapiens

Name  ? holocytochrome c synthase Cytological Location  Xp22.2
Brief Description  holocytochrome c synthase
description  The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
  • synonyms:
  • NM_001122608,
  • CCHL,
  • cytochrome c heme-lyase,
  • holocytochrome c synthase (cytochrome c heme-lyase),
  • microphthalamia with linear skin defects,
  • LSDMCA1,
  • HGNC:4837,
  • OTTHUMG00000021128,
  • uc004cuj.4,
  • MLS,
  • HCCS,
  • MCOPS7,
  • CCHL,
  • MLS
  • identifiers:
  • 3052,
  • ENSG00000004961,
  • HCCS

Genome feature

Region: gene ? Length: 11801  
Location: X:11111286-11123086 Cyto location: Xp22.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

62 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results