EVC2 Polyclonal Antibody

Reddot Biotech

EVC2 Polyclonal Antibody

5

1 mg/ml

EVC2

EvC ciliary complex subunit 2

Ellis van Creveld syndrome 2; ellis-van Creveld syndrome protein 2; LBN; limbin; WAD

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.

-20°C

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