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Anti-EVC2 Antibody
品牌：Antibodies
貨號：
規(guī)格：100μl
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Anti-EVC2 Antibody
商品詳情 參考文獻 相關(guān)資料
Name: Anti-EVC2 Antibody
See all EVC2 primary antibodies
Description: Rabbit polyclonal antibody to EVC2
Specificity: The antibody detects endogenous levels of total EVC2 protein.
Applications: WB, IHC
Reactivity: Human
Immunogen: Synthetic peptide corresponding to a region derived from internal residues of human Ellis van Creveld syndrome 2
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Purification: Antigen affinity purification.
Concentration: 2.6mg / ml
Formulation: Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 50% Glycerol.
Storage: Store at -20?C
Function: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.
Tissue Specificity: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Involvement in Disease: Ellis-van Creveld syndrome: An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.

Acrofacial dysostosis, Weyers type: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
Cellular Location: Cell membrane. Cytoplasm > Cytoskeleton > Cilium basal body. Cell projection > Cilium. Cell projection > Cilium membrane. Nucleus.
Database Links:
  • Entrez Gene: 132884?Human
  • Omim: 607261?Human
  • SwissProt: Q86UK5?Human
  • Unigene: 87306?Human
    		•
    Synonyms:
  • Ellis van Creveld syndrome 2 Antibody
  • EVC2 Antibody
  • LBN Antibody
  • Limbin Antibody
    		•
    Information: Target information shown above is from the UniProt Consortium.
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