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