Product Datasheet
EVC2 Antibody
Catalog Number: 37560
Technical:tech@swbio.com
Information:info@swbio.com
Description
- 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.
- Immunogen:
- Synthetic peptide corresponding to a region derived from internal residues of human Ellis van Creveld syndrome 2
- Purification:
- Antigen affinity purification.
- Specificity:
- The antibody detects endogenous levels of total EVC2 protein.
- 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.
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