cbEGFCa2+-Binding Epidermal Growth Factor
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Therefore, this frameshift mutation was identified as being rare, probably disease causing, which might affect protein function by influencing the structure of the FBN1 protein or the binding between calcium and the cbEGF domain.
Fibrillins contain 6 -8 intradomain disulfide bonds, a calcium-binding epidermal growth factor-like (cbEGF) domain, and a transforming growth factor [beta] binding protein-like (TB/8-Cys) domain.
(3) Nonstandard abbreviations: OMIM, Online Mendelian Inheritance in Man; CBS, cystathionine ^-synthase; cbEGF, calcium-binding epidermal growth factor-like; TB/8-Cys, transforming growth factor [beta] binding protein-like (TB/8-Cys).