Humpath.com - Human pathology

Home > A. Molecular pathology > EVC1

EVC1

MIM.604831 4p16

Wednesday 1 October 2003

EVC1 (or EVC) encodes a 992-amino acid protein, that is mutated in Ellis-van Creveld syndrome (MIM.225500) and in Weyers acrodental dysostosis (MIM.193530).

Pathology

- germline mutations in

See also

- EVCs

  • EVC1
  • EVC2

References

- Takamine, Y.; Krejci, P.; Mekikian, P. B.; Wilcox, W. R. :
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter) Am. J. Med. Genet. 130A: 96-97, 2004. PMID: 15368503