FLNA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FLNA wild-type allele is located in the vicinity of Xq28 and is approximately 26 kb in length. This allele, which encodes filamin-A protein, plays a role in actin structure and function. Mutations in this gene are associated with several syndromes, including periventricular nodular heterotopias, otopalatodigital syndrome type 1 and type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and X-linked congenital idiopathic intestinal pseudoobstruction.

**Synonyms:** - ABP-280 - ABPX - CSBS - CVD1 - FLN - FLN-A - FLN1 - FMD - Filamin A, Alpha wt Allele - MNS - NHBP - OPD - OPD1 - OPD2 - XLVD - XMVD