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.
仕様
Synonyms：Ellis van Creveld syndrome 2,LBN,Limbin
Host：Rabbit
Reactivity：Human
Applications：IHC,ELISA
Concentration：1mg/mL
Immunogen：Synthetic peptide of human EVC2
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：PBS with 0.05％ sodium azide, 50％ glycerol, PH7.3
