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Antibodies
Anti-EVC2 Antibody
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产品名称:
Anti-EVC2 Antibody
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简单介绍
Anti-EVC2
Antibody
Anti-EVC2 Antibody
的详细介绍
Overview
Name:
Anti-EVC2
Antibody
See all EVC2 primary antibodies
Description:
Rabbit polyclonal antibody to EVC2
Applications:
WB, IF
Reactivity:
Human
Immunogen:
Synthetic peptide contain a sequence corresponding to a region within amino acids 1246 and 1308 of EVC2
Host:
Rabbit
Clonality:
Polyclonal
Conjugate:
Unconjugated
Purification:
Purified by antigen-affinity chromatography.
Formulation:
Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
Storage:
Store at -20˚C for long term preservation (recommended). Store at 4˚C for short term use.
Target
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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