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Cell line expression
Protein structure
EVC2
EvC ciliary complex subunit 2LBN
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. [provided by RefSeq, Oct 2009]
Top validated antibodies |
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| LSBio |  LS-C406384 |
Polyclonal |
WB
EL
IHC
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| Biorbyt | orb2899509 |
Polyclonal |
WB
EL
ICC
IHC
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| Novus Biologicals | NB100-1216 |
1 references | Polyclonal |
EL
IHC
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| antibodies-online | ABIN249843 |
1 references | Polyclonal |
EL
IHC
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| Cusabio Biotech Co., Ltd | CSB-PA097491 |
Polyclonal |
WB
EL
IHC
|
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