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The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: fibrillin 5; Fibrillin-2; syndatyly ems
Gene Aliases: BC063774; CCA; DA9; EOMD; Fbn-2; FBN2; Fib-2; mKIAA4226; sne; sy
UniProt ID: (Human) P35556, (Mouse) Q61555
Entrez Gene ID: (Human) 2201, (Rat) 689008, (Mouse) 14119
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