EVC2 Antibody

Cusabio

EVC2 Antibody

20

Western Blot, ELISA, ImmunoHistoChemistry

Research Use Only

Polyclonal

Unconjugated

EVC2

EvC ciliary complex subunit 2

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

Rabbit

IgG

Limbin

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.

Human

-20°C or -80°C

41116161