Primary Identifier | MGI:87883 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 11433 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acid phosphatase activity. Acts upstream of or within several processes, including bone resorption; negative regulation of metabolic process; and response to bacterium. Located in lysosome. Is expressed in several structures, including alimentary system; limb; liver; skeleton; and skin. Human ortholog(s) of this gene implicated in spondylometaphyseal dysplasia. Orthologous to human ACP5 (acid phosphatase 5, tartrate resistant). PHENOTYPE: Homozygous mutation of this gene results in skeletal defects such as osteopetrosis, and shortening and widening of the bones. Heterozygous mutants display the same phenotype with lesser severity. [provided by MGI curators] |