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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

EVC2 抗体

High quality antibodies with extensive validation data.

EVC2 蛋白

Proteins for various applications incl. WB, ELISA, IF etc.

Recommended EVC2 抗体

Product
Reactivity
Application
Validations
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

Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity Cow
Source Yeast
Validations
Cat. No. ABIN1643359
Quantity 1 mg
Datasheet Datasheet

Latest Publications for our EVC2 Products

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, 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, limbin

Protein 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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