Primary Identifier | MGI:3583957 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 546144 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Acts upstream of or within enamel mineralization; extracellular matrix disassembly; and protein localization to plasma membrane. Located in endosome and nucleus. Used to study amelogenesis imperfecta hypomaturation type 2A3. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A3. Orthologous to human WDR72 (WD repeat domain 72). PHENOTYPE: Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. [provided by MGI curators] |