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Human Polyclonal EVC2 Primary Antibody for IHC (p), IHC - ABIN249843
Takeda, Takami, Oguni, Tsuji, Yoneda, Sato, Ihara, Itoh, Kata, Mishina, Womack, Moritomo, Sugimoto, Kunieda: Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. in Proceedings of the National Academy of Sciences of the United States of America 2002
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.
Ellis van Creveld syndrome 2
, Ellis van Creveld syndrome 2 (limbin)
, ellis-van Creveld syndrome protein 2
, Ellis van Creveld syndrome 2 homolog