EVC2; LBN; LIMBIN; Ellis van Creveld syndrome 2 (limbin); limbin; Limbin; EVC2 / Limbin

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of EVC2 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

141,159 Da

EvC ciliary complex subunit 2

limbin

Limbin

LBN; EVC2??[Similar Products]

LBN_HUMAN

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]

EVC2: Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder 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. Defects in EVC2 are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16.2

Cellular Component: cilium; cytoplasm; cytoskeleton; integral to membrane; nucleus

Biological Process: smoothened signaling pathway

Disease: Ellis-van Creveld Syndrome; Weyers Acrofacial Dysostosis

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