help  | about  | cite  | software

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:
  • HPPDASE,
  • 4-HPPD,
  • uc001ubj.4,
  • NM_002150,
  • HGNC:5147,
  • HPD,
  • GLOD3,
  • 4HPPD,
  • 4HPPD,
  • OTTHUMG00000169081,
  • PPD,
  • GLOD3,
  • glyoxalase domain containing 3,
  • BC014790,
  • 4-HPPD,
  • PPD
  • identifiers:
  • 3242,
  • ENSG00000158104,
  • HPD

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results