| Primary Identifier | MGI:96112 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 15288 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables hydroxymethylbilane synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase). PHENOTYPE: Mice heterozygous for one null allele and a functional allele with a milder mutation exhibit typical features of acute intermittent porphyria with massive urinary excretion of aminolevulinic acid after phenobarbital treatment, erythruria, ataxia, motor dysfunction, and neurologic muscle atrophy. [provided by MGI curators] |
Features --> Cross References
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
