This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

  • Regulation of membrane depolarization
  • Multicellular organism development
  • Muscle organ development
  • Animal organ morphogenesis
  • Negative regulation of G2/M transition of mitotic cell cycle
  • Myopathy, x-linked, with postural muscle atrophy
  • Scapuloperoneal myopathy, x-linked dominant
  • Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset
  • Reducing body myopathy, x-linked 1b, with late childhood or adult onset
  • Uruguay faciocardiomusculoskeletal syndrome

Emw. Structure of the FHL1 protein. Based on PyMOL rendering of PDB 1×63.

Gene Location