Primary Identifier | MGI:1891427 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 64654 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables type 1 fibroblast growth factor receptor binding activity. Involved in several processes, including ERK1 and ERK2 cascade; positive regulation of ERK1 and ERK2 cascade; and response to sodium phosphate. Acts upstream of or within several processes, including intracellular phosphate ion homeostasis; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; and regulation of bone mineralization. Located in extracellular space. Is expressed in compact bone; coronal suture; femur; tibia; and tongue. Used to study autosomal dominant hypophosphatemic rickets. Human ortholog(s) of this gene implicated in autosomal dominant hypophosphatemic rickets. Orthologous to human FGF23 (fibroblast growth factor 23). PHENOTYPE: Homozygous mutant mice are severely growth retarded and die prematurely. They exhibit hypophosphatemia, abnormal vitamin D metabolism, renal defects, skeletal defects, and are infertile. [provided by MGI curators] |