蛋白质/抗原/多肽 >> 重组蛋白
重组膜蛋白EVC2
产品介绍 基因名: Evc2 产品别名: 1110017L09Rik; Lbn; limbin; Evc2; EvC ciliary complex subunit 2; EvC ciliary complex subunit 2; limbin; Ellis van Creveld syndrome 2 homolog; 膜蛋白EVC2; 背景信息: EVC2 is an integral membrane protein that plays a vital role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. 标签:His-tag |
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