Anti Ellis-van Creveld Syndrome Protein Homolog (EVC) pAb (Rabbit, Antiserum)

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 (Hh) signaling molecules.[2] 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.[2] In a study of 65 individuals affected with EvC, mutations in the EVC gene were found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon.[3] 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.[4] [from: Wikipedia contributors. (2019, May 3). EVC (gene). In Wikipedia, The Free Encyclopedia. Retrieved 19:37, June 3, 2019, from https://en.wikipedia.org/w/index.php?title=EVC_(gene)&oldid=895336273]