Ellis-van Creveld syndrome is a hereditary disease characterized by short and small limbs due to chondrodysplasia (1), and Ellis-van Creveld (EVC) was identified as responsible gene (2). EVC retains transmembrane domain, leucine zipper domain and nuclear localization signal. EVC is related to proliferation and differentiation of chondrocyte in bone development. By immunostaining using this antibody, the signals were obtained from chondrocytes in mature layer to hypertrophy layer of growth-plate cartilage (3).
• Western Blot: 1/500-1/1,000 (Predicted molecular weight: 110kDa)
• Immunohistochemistry: 1/500-1/1,000
Optimal dilutions/concentrations should be determined by the end user.
1) Ellis RWB, van Creveld S. 1940. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch. Dis. Child, 15:65-84.
2) Ruiz-Perez VL, et al.. 2000. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet., 24:283-286.
3) Tsuji, T. et al. 2004 Expression of Ellis-van Creveld (Evc) gene in the rat tibial growth plate. Anatomical Record. Anatomical Record 279A: 729-723.
To be used for research only. DO NOT use for human gene therapy or clinical diagnosis.