EVC2 产品
(Ellis Van Creveld Syndrome 2 (EVC2))
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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].
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Featured EVC2 Categories
Recommended EVC2 抗体
Product
Reactivity
Application
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Cat. No.
Quantity
Datasheet
Reactivity
Human
Application
ELISA, IHC, IF
Validations
- (3)
Cat. No.
ABIN7158397
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Human, Mouse
Application
ELISA, IHC, WB
Validations
- (3)
Cat. No.
ABIN7243292
Quantity
200 μL
Datasheet
Datasheet
Reactivity
Human
Application
WB, IF, ICC
Validations
- (2)
Cat. No.
ABIN2856532
Quantity
100 μL
Datasheet
Datasheet
Recommended EVC2 蛋白
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Reactivity
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Latest Publications for our EVC2 Products
: "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, Vol. 99, Issue 16, pp. 10549-54, (2002) (PubMed).Synonyms and alternative names related to EVC2
EvC ciliary complex subunit 2 (EVC2), EvC ciliary complex subunit 2 (Evc2), 1110017L09Rik, EVC2, LBN, Lbn, limbinProtein level used designations for EVC2
- Ellis van Creveld syndrome 2
- limbin
- Ellis van Creveld syndrome 2 (limbin)
- limbin-like
- ellis-van Creveld syndrome protein 2
- Ellis van Creveld syndrome 2 homolog
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