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Protein Coding Gene : Hpdl 4-hydroxyphenylpyruvate dioxygenase-like

Primary Identifier  MGI:2444646 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  242642
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable 4-hydroxyphenylpyruvate dioxygenase activity and metal ion binding activity. Predicted to be involved in aromatic amino acid metabolic process. Located in mitochondrion. Used to study neurodegenerative disease. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 83. Orthologous to human HPDL (4-hydroxyphenylpyruvate dioxygenase like).
PHENOTYPE: Mice exhibit symptoms of early onset neurodegeneration with lethargy and seizures at P5, reduced body weight at P9 and P10, neurodegeneration, and death prior to P15. [provided by MGI curators]
  • synonyms:
  • cDNA sequence BC034099,
  • MGC:31514,
  • BC034099,
  • glyoxalase domain containing 1,
  • Hpdl,
  • MGI:2384306,
  • A830048M07Rik,
  • Gloxd1,
  • 4-hydroxyphenylpyruvate dioxygenase-like,
  • RIKEN cDNA A830048M07 gene

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Genome

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4 Involved In Mutations

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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.

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Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

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