EVC2 Antibody

Catalog Number:

37560

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#: Q86UK5
NCBI Gene ID: 132884
Gene Accssion: NP_667338

Form of Antibody:

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

Storage/Stability:

Immunogen:

Synthetic peptide corresponding to a region derived from internal residues of human Ellis van Creveld syndrome 2

Purification:

Antigen affinity purification.

Specificity/Sensitivity:

The antibody detects endogenous levels of total EVC2 protein.

Applications:

WB

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.

References:

appl_detail:

Western blotting: 1:200-1:1000

Datasheet PDF