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EVC is a gene associated with Ellis-van Creveld syndrome. It overlaps with the CRMP1 gene.[1]

EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog signaling molecules (Hh). Mice with an inactivation of the EVC gene (EVC -/-) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments. In a study of 65 individuals affected with EvC, mutations in the EVC gene was found in 20 of them, and mostly attributed to a frameshift resulting in a nonsense codon. More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations.