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  • 發布時間:2022-08-09 15:34 原文鏈接: FGF23基因編碼功能及結構描述

    該基因編碼成纖維細胞生長因子家族的一個成員,具有廣泛的有絲分裂和細胞存活活性,參與多種生物學過程。這種基因的產物調節腎臟中的磷酸鹽穩態和轉運。全長的功能性蛋白可以通過切割成n-末端和c-末端鏈而失活。這個切割位點的突變導致常染色體顯性遺傳低磷血癥性佝僂病(ADHR)。該基因突變也與高磷血癥家族性腫瘤鈣沉著癥(hftc)有關。[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]

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