EVC is a gene associated with
Ellis–Van Creveld syndrome
Ellis–Van Creveld syndrome (also called ''mesoectodermal dysplasia'' but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.
Signs and symptoms
It involves numerous anomalies including:
* Post-axial ...
. It overlaps with the
CRMP1
Collapsin response mediator protein 1, encoded by the CRMP1 gene, is a human protein of the CRMP family.
This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thou ...
gene.
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.
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 were found in 20 of them, and primarily 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.
See also
*
Leucine zipper
A leucine zipper (or leucine scissors) is a common three-dimensional structural motif in proteins. They were first described by Landschulz and collaborators in 1988 when they found that an enhancer binding protein had a very characteristic 30-amin ...
References
External links
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