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Anti-EVC2 Antibody

品牌：Antibodies

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規(guī)格：100μl

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Anti-EVC2 Antibody

商品詳情參考文獻(xiàn) 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.