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Protein Coding Gene : Hgd homogentisate 1, 2-dioxygenase

Primary Identifier  MGI:96078 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  15233
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables homogentisate 1,2-dioxygenase activity. Acts upstream of or within amino acid metabolic process. Is expressed in several structures, including alimentary system; brain; genitourinary system; liver; and sensory organ. Used to study alkaptonuria. Human ortholog(s) of this gene implicated in alkaptonuria. Orthologous to human HGD (homogentisate 1,2-dioxygenase).
PHENOTYPE: Mutations in this gene result in high levels of urinary homogentisic acid. [provided by MGI curators]
  • synonyms:
  • alkaptonuria,
  • homogentisate 1, 2-dioxygenase,
  • Hgd,
  • MGD-MRK-1258,
  • MGD-MRK-10703,
  • aku,
  • MGI:87987

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For