| Primary Identifier | MGI:97604 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 18770 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pyruvate kinase activity. Involved in glycolytic process. Acts upstream of or within response to other organism. Located in cytoplasm and plasma membrane. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study congenital nonspherocytic hemolytic anemia 2 and malaria. Human ortholog(s) of this gene implicated in Gaucher's disease; congenital nonspherocytic hemolytic anemia; congenital nonspherocytic hemolytic anemia 2; malaria; and type 2 diabetes mellitus. Orthologous to human PKLR (pyruvate kinase L/R). PHENOTYPE: Mice homozygous for loss of function mutations in this gene suffer from hemolytic anemia. This is also a candidate gene for malaria resistance (QTL Char4) and immunity to Salmonella typhimurium (QTL Ity4). [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
