Species: Human
Specificity/Sensitivity: The peptide was used in the production of GTX89863.
Form: Lyophilized powder
Buffer (with preservative): Reconstitute with 200μl distilled water to obtain a 0.5mg/ml peptide solution. Lyophilized from 5% (v/v) acetonitrile/H₂O, no preservative.
Background: 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]
Region Sequence: C-LNAKKAMRALGMD
Full Name: Ellis van Creveld syndrome 2
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