Primary Identifier | MGI:96213 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 15445 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable 4-hydroxyphenylpyruvate dioxygenase activity; iron ion binding activity; and protein homodimerization activity. Predicted to be involved in tyrosine catabolic process. Predicted to act upstream of or within L-phenylalanine catabolic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Predicted to be active in Golgi membrane and endoplasmic reticulum membrane. Is expressed in alimentary system; liver; musculature; and respiratory system. Used to study tyrosinemia type III. Human ortholog(s) of this gene implicated in hawkinsinuria and tyrosinemia type III. Orthologous to human HPD (4-hydroxyphenylpyruvate dioxygenase). PHENOTYPE: CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles. [provided by MGI curators] |