Primary Identifier | MGI:2145900 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 105732 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable keratin filament binding activity and protein kinase binding activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to cytoskeleton. Predicted to be located in cytoplasm. Predicted to colocalize with keratin filament. Is expressed in lower jaw and tooth. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3A. Orthologous to human FAM83H (family with sequence similarity 83 member H). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, sparse and scruffy coat, scaly skin, weakness, hypoactivity, delayed incisor eruption, periodontal pockets around incisors and molars with inserted coat hairs, partial postnatal lethality and premature death. [provided by MGI curators] |