Primary Identifier | MGI:2136853 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 80752 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Acts upstream of or within several processes, including odontoblast differentiation; odontogenesis of dentin-containing tooth; and osteoclast maturation. Located in Golgi apparatus and extracellular space. Is expressed in several structures, including alimentary system; central nervous system; connective tissue; genitourinary system; and musculoskeletal system. Used to study rickets. Human ortholog(s) of this gene implicated in amelogenesis imperfecta. Orthologous to human FAM20C (FAM20C golgi associated secretory pathway kinase). PHENOTYPE: Mice with global conditional deletion of this gene display infertility, dwarfism, delayed bone ossification, reduced bone mineralization, fragile skeletons, hypophosphatemic rickets, and impaired osteoblast differentiation. [provided by MGI curators] |