| Primary Identifier | MGI:97548 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 18642 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables 6-phosphofructokinase activity and identical protein binding activity. Involved in canonical glycolysis. Acts upstream of or within glucose homeostasis; polysaccharide catabolic process; and positive regulation of insulin secretion. Located in sperm principal piece. Is active in cytosol. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and musculoskeletal system. Used to study glycogen storage disease VII. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Orthologous to human PFKM (phosphofructokinase, muscle). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology. [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
