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Gene : CPOX Homo sapiens

Name  ? coproporphyrinogen oxidase Cytological Location  3q11.2
Brief Description  coproporphyrinogen oxidase
Description  The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
  • synonyms:
  • HCP,
  • coproporphyria,
  • COX,
  • BC017210,
  • HGNC:2321,
  • uc003dsx.4,
  • CPO,
  • coproporphyrinogen oxidase (coproporphyria, harderoporphyria),
  • CPO,
  • CPX,
  • HCP,
  • NM_000097,
  • CPOX,
  • homozygous coproporphyria,
  • CPX,
  • OTTHUMG00000160016
  • identifiers:
  • 1371,
  • ENSG00000080819,
  • CPOX

Genome feature

Region: gene ? Length: 23848  
Location: 3:98569837-98593684 reverse strand Cyto location: 3q11.2


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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.

Gene --> Overlapping genes.

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results