| Primary Identifier | MGI:87983 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 11647 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables alkaline phosphatase activity; phosphoamidase activity; and pyrophosphatase activity. Involved in several processes, including futile creatine cycle; inhibition of non-skeletal tissue mineralization; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cellular response to organic cyclic compound; endochondral ossification; and response to antibiotic. Located in extracellular matrix; extracellular membrane-bounded organelle; and plasma membrane. Is active in mitochondrial intermembrane space and mitochondrial membrane. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; limb; and skeleton. Used to study adult hypophosphatasia; childhood hypophosphatasia; and infantile hypophosphatasia. Human ortholog(s) of this gene implicated in adult hypophosphatasia; childhood hypophosphatasia; hypophosphatasia; and infantile hypophosphatasia. Orthologous to human ALPL (alkaline phosphatase, biomineralization associated). PHENOTYPE: Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. [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
