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EVC P57679

EVC复合体成员EVC (DWF-1) (Ellis-van Creveld综合征蛋白)

蛋白质信息 (UniProt)

EVC复合体成员EVC (DWF-1) (Ellis-van Creveld综合征蛋白)

P57679

功能描述

EvC复合物的组分,正调控纤毛Hedgehog (Hh)信号通路。参与软骨内生长和骨骼发育。 {ECO:0000250|UniProtKB:P57680}。

组织特异性

Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

亚细胞定位

Cell membrane

关键词

Cell membrane Cell projection Ciliopathy Cilium Cytoplasm Cytoskeleton Disease variant Dwarfism Ectodermal dysplasia Membrane