Creative biogene
SHARE THIS
facebook twitterlinkedingoogle plusStumbleUpon blog


  Order Info:   order info
Products
CBpromise

24x7 CUSTOMER SERVICE

CONTACT US TO ORDER

;

evc2

Bookmark and Share
Official Full Name
Ellis van Creveld syndrome 2
Background
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.
Synonyms
EVC2; Ellis van Creveld syndrome 2; limbin; LBN; Ellis van Creveld syndrome 2 (limbin); Ellis-van Creveld syndrome 2-like protein

CONTACT CREATIVE BIOGENE

45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-biogene.com

Europe
Tel: 44-207-097-1828

Terms & Conditions | Privacy Policy | Sitemap | FAQ | © 2010-2017 Creative Biogene. All Rights Reserved.
-->