FHL1 : four and a half LIM domains 1

Description

The FHL1 (four and a half LIM domains 1) is a protein-coding gene located on chromosome X.

The FHL1 gene produces three protein variants (isoforms) that are important for skeletal and cardiac muscle function. The primary isoform, FHL1A, is crucial for sarcomere assembly, which is necessary for muscle contraction. It also influences chemical signaling within muscle cells, maintains cell structure, and impacts muscle growth and size. The roles of the shorter isoforms, FHL1B and FHL1C, are less well-understood. FHL1B shuttles between the cell nucleus and the nuclear envelope, although its function in this structure remains unclear. Both FHL1B and FHL1C are thought to contribute to the normal structure and function of skeletal and cardiac muscles.

FHL1 is also known as FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA.

Associated Diseases

• Myopathy, reducing body, X-linked, childhood-onset
• Uruguay faciocardiomusculoskeletal syndrome
• X-linked Emery-Dreifuss muscular dystrophy
• Scapuloperoneal myopathy, X-linked dominant
• Myopathy, X-linked, with postural muscle atrophy
• Myopathy, reducing body, X-linked, early-onset, severe
• Emery-Dreifuss muscular dystrophy