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] |