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Gene : HGD Homo sapiens

Name  ? homogentisate 1,2-dioxygenase Cytological Location  3q13.33
Brief Description  homogentisate 1,2-dioxygenase
Description  This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
  • synonyms:
  • HGD,
  • OTTHUMG00000159441,
  • homogentisate 1,2-dioxygenase (homogentisate oxidase),
  • AKU,
  • AKU,
  • HGO,
  • HGNC:4892,
  • uc003edw.4,
  • homogentisate oxidase,
  • HGO,
  • NM_000187
  • identifiers:
  • 3081,
  • ENSG00000113924,
  • HGD

Genome feature

Region: gene ? Length: 54388  
Location: 3:120628168-120682555 reverse strand Cyto location: 3q13.33

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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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]


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

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416 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results