菜单 基因医生

该基因编码成纤维细胞生长因子家族的一个成员，具有广泛的有丝分裂和细胞存活活性，参与多种生物学过程。这种基因的产物调节肾脏中的磷酸盐稳态和转运。全长的功能性蛋白可以通过切割成n-末端和c-末端链而失活。这个切割位点的突变导致常染色体显性遗传低磷血症性佝偻病（ADHR）。该基因突变也与高磷血症家族性肿瘤钙沉着症（hftc）有关。[由RefSeq提供，2013年2月]
This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]