FBN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FBN1 wild-type allele is located in the vicinity of 15q21.1 and is approximately 237 kb in length. This allele, which encodes fibrillin-1 protein, plays a role in modulation of connective tissue structure. Mutations in the gene are associated with a number of congenital defects.

**Synonyms:** - ACMICD - ECTOL1 - FBN - Fibrillin 1 (Marfan Syndrome) Gene - Fibrillin 1 wt Allele - Fibrillin Gene - GPHYSD2 - MASS - MFLS - MFS1 - Marfan Syndrome Gene - OCTD - SGS - SSKS - WMS - WMS2