Primary Identifier | MGI:1101771 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 16591 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Acts upstream of or within several processes, including determination of adult lifespan; energy reserve metabolic process; and positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway. Predicted to be located in extracellular region and membrane. Is expressed in brain; femur; and metanephros. Used to study hyperphosphatemic familial tumoral calcinosis and pulmonary emphysema. Human ortholog(s) of this gene implicated in coronary artery disease; intracranial embolism; and spondylosis. Orthologous to human KL (klotho). PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators] |