蛋白质/抗原/多肽 >> 重组蛋白
重组软骨外胚层发育不良相关蛋白
产品介绍 基因名: EVC 产品别名: DWF-1; EVC1; EVCL; EVC; EvC ciliary complex subunit 1; EvC ciliary complex subunit 1; ellis-van Creveld syndrome protein; Ellis van Creveld protein; Ellis van Creveld syndrome; 软骨外胚层发育不良相关蛋白; 背景信息: EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects. 标签:His-tag |
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