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FHL1
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'''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 == <references /> [[Category:Human proteins]] [[Category:Genes]] [[Category:Muscular dystrophy]] [[Category:Protein domains]] {{medicine-stub}} {{No image}} __NOINDEX__
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