Literature associating EVC2 and acromesomelic dysplasia, Hunter-Thompson type
Ellis-van Creveld syndrome protein 2; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
Synonyms: EVC2, EVC2p, hEVC2, E9PFT2, Q4W5A4 ...