FHL1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FHL1 wild-type allele is located in the vicinity of Xq26.3 and is approximately 65 kb in length. This allele, which encodes four and a half LIM domains protein 1, plays a role in muscle organogenesis. Mutations in the gene are associated with Uruguay faciocardiomusculoskeletal syndrome, X-linked dominant scapuloperoneal myopathy, X-linked Emery-Dreifuss muscular dystrophy 6, X-linked myopathy with postural muscle atrophy and X-linked reducing body myopathy types 1a (severe, infantile or early childhood onset) and 1b (late childhood or adult onset).

**Synonyms:** - FCMSU - FHL-1 - FHL1A - FHL1B - FLH1A - Four and a Half LIM Domains 1 wt Allele - Four-and-a-Half LIM Domains 1 Gene - Four-and-a-Half Lin11, Isl-1 and Mec-3 Domains 1 Gene - KYO-T - KYOT - KYOT, Mouse, Homolog of Gene - MGC111107 - RBMX1A - RBMX1B - SLIM - SLIM-1 - SLIM1 - SLIMMER - XMPMA - bA535K18.1