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  • Human FGF23 wild-type allele is located in the vicinity of 12p13.3 and is approximately 12 kb in length. This allele, which encodes fibroblast growth factor 23 protein, plays a role in regulation of phosphate homeostasis. Mutations in this gene are associated with autosomal dominant hypophosphatemic rickets (ADHR) and familial tumoral calcinosis with hyperphosphatemia. It is overexpressed in oncogenic hypophosphatemic osteomalacia (OHO).
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