EVC2 Q86UK5

Limbin (Ellis-van Creveld综合征蛋白2) (EVC2)

蛋白质信息 (UniProt)

Limbin (Ellis-van Creveld综合征蛋白2) (EVC2)

Q86UK5

功能描述

EvC复合物的组分，正调控纤毛Hedgehog (Hh)信号通路。在骨骼形成和骨骼发育中起关键作用。可能参与早期胚胎形态发生。 {ECO:0000250|UniProtKB:Q8K1G2}。

组织特异性

Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.

亚细胞定位

Cell membrane

关键词

Alternative splicing Cell membrane Cell projection Ciliopathy Cilium Coiled coil Cytoplasm Cytoskeleton Disease variant Dwarfism

UniProt: Q86UK5

NCBI Gene

GeneCards