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Gene : HPD Homo sapiens

Name  ? 4-hydroxyphenylpyruvate dioxygenase Cytological Location  12q24.31
Brief Description  4-hydroxyphenylpyruvate dioxygenase
Description  The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
  • synonyms:
  • HPD,
  • HGNC:5147,
  • PPD,
  • uc001ubj.4,
  • 4-HPPD,
  • GLOD3,
  • BC014790,
  • OTTHUMG00000169081,
  • PPD,
  • 4-HPPD,
  • 4HPPD,
  • NM_002150,
  • GLOD3,
  • glyoxalase domain containing 3,
  • 4HPPD,
  • identifiers:
  • 3242,
  • ENSG00000158104,
  • HPD

Genome feature

Region: gene ? Length: 49085  
Location: 12:121839527-121888611 reverse strand Cyto location: 12q24.31

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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2 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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3740 SNPs

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results