FBN1

(redirected from Fibrillin 1)
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FBN1

A gene on chromosome 15q21.1 that encodes fibrillin 1, a member of the fibrillin family, which is a large, extracellular matrix glycoprotein. Fibrillin 1 provides structural component of 10–12-nm calcium-binding microfibrils, which provide force-bearing support in elastic and nonelastic connective tissue throughout the body.

Molecular pathology
FBN1 mutations are associated with Marfan syndrome, ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome and Shprintzen-Goldberg craniosynostosis syndrome.
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References in periodicals archive ?
Marfan syndrome is caused by mutations in the FBN1 (fibrillin 1) gene, whereas homocystinuria is caused in most cases by mutations in the CBS gene.
4 Human genes: CBS, cystathionine-beta-synthase; MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase; MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; MMADHC, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; LMBRD1, LMBR1 domain containing 1; FBN1, fibrillin 1.