Primary Identifier | MGI:2388266 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 208659 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein serine/threonine kinase activator activity. Involved in positive regulation of protein phosphorylation. Acts upstream of or within enamel mineralization and response to bacterium. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1G. Orthologous to human FAM20A (FAM20A golgi associated secretory pathway pseudokinase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators] |