FHL1

FHL1 (Four and a half LIM domains 1) is a protein that in humans is encoded by the FHL1 gene. This protein is a member of the LIM protein family, characterized by the presence of LIM domains. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers.

Function

FHL1 is a multifunctional protein that interacts with a variety of proteins and plays a role in several cellular processes. It is involved in muscle development, cell adhesion, and signal transduction. Mutations in the FHL1 gene are associated with several diseases, including Emery-Dreifuss muscular dystrophy, X-linked recessive scapuloperoneal myopathy, and reducing body myopathy.

Structure

The FHL1 protein contains four and a half LIM domains, hence its name. Each LIM domain consists of two zinc-finger motifs separated by a two-amino acid residue hydrophobic linker. The LIM domains of FHL1 are involved in protein-protein interactions.

Clinical significance

Mutations in the FHL1 gene can lead to a variety of muscle disorders. These include:

• Emery-Dreifuss muscular dystrophy (EDMD): This is a condition that affects the connective tissue. Symptoms include muscle weakness and wasting, joint contractures, and heart problems.

• Scapuloperoneal syndrome: This is a rare genetic disorder characterized by muscle weakness and wasting, primarily affecting the lower legs and shoulders.

• Reducing body myopathy: This is a rare condition characterized by progressive muscle weakness and the presence of abnormal protein aggregates, known as reducing bodies, in muscle cells.

See also

• LIM domain
• Muscular dystrophy
• Protein domain

References

   This article is a medical stub. You can help WikiMD by expanding it!