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 8.0.0) Predicted to enable 4-hydroxymandelate synthase 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] |