Ellis van Creveld syndrome | |||||||
---|---|---|---|---|---|---|---|
EVC gene and its neighbors on chromosome 4p16 | |||||||
Identifiers | |||||||
Symbol | EVC | ||||||
NCBI gene | 2121 | ||||||
HGNC | 3497 | ||||||
OMIM | 604831 | ||||||
RefSeq | NM_153717 | ||||||
UniProt | P57679 | ||||||
Other data | |||||||
Locus | Chr. 4 p16 | ||||||
|
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]
Ellis van Creveld syndrome | |||||||
---|---|---|---|---|---|---|---|
EVC gene and its neighbors on chromosome 4p16 | |||||||
Identifiers | |||||||
Symbol | EVC | ||||||
NCBI gene | 2121 | ||||||
HGNC | 3497 | ||||||
OMIM | 604831 | ||||||
RefSeq | NM_153717 | ||||||
UniProt | P57679 | ||||||
Other data | |||||||
Locus | Chr. 4 p16 | ||||||
|
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]