| Primary Identifier | MGI:87990 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 11656 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 5-aminolevulinate synthase activity. Involved in erythrocyte differentiation; heme biosynthetic process; and hemoglobin biosynthetic process. Acts upstream of or within intracellular iron ion homeostasis. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and liver and biliary system. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality and severe anemia due to arrest of fetal hematopoiesis. [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
