FGFR4 信号通路在疾病中的作用
中文名称
通路描述
FGFR4 是 FGF 受体家族中研究相对较少的一种，与其他 FGFR 基因不同，FGFR4 的突变与发育障碍无关。然而，最近在一些癌症中发现了 FGFR4 编码序列的体细胞突变。8% 的横纹肌肉瘤具有 FGFR4 激酶域的激活突变。其中两个突变（N535K 和 V550E）已被证明支持 NIH 3T3 细胞的致癌转化。FGFR4 的 Y367C 突变也在乳腺癌中被发现。FGFR2 和 FGFR3 的旁系同源残基突变与骨骼发育异常和多种癌症的发生有关。此外，FGFR4 第 388 位的 SNP 与疾病进展的恶性程度相关。G388R 等位基因在乳腺癌、结直肠癌和前列腺癌中的表达与快速进展时间、复发率和转移率增加相关。
英文描述
Post-translational modification: synthesis of GPI-anchored proteins Glycosylphosphatidyl inositol (GPI) acts as a membrane anchor for many cell surface proteins. GPI is synthesized in the endoplasmic reticulum. In humans, a single pathway consisting of eleven reactions appears to be responsible for the synthesis of the major GPI species involved in membrane protein anchoring.As a nascent protein fated to become GPI-anchored moves into the lumen of the endoplasmic reticulum, it is attacked by a transamidase complex that cleaves it near its carboxy terminus and attaches an acylated GPI moiety. The GPI moiety is deacylated, yielding a protein-GPI conjugate that can be efficiently transported to the Golgi apparatus.
所含基因
18 个基因