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]

基因名:FGF23
别名:ADHR,FGFN,HYPF,HFTC2,HPDR2,PHPTC
基因ID:8074
Chromosome:
(GRCh37)
12 Start: 4477393 End: 4488894 Strand: 
信号通路: 细胞增殖 
FGF23 基因突变与药物