FHL1
LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM
Biological Process
Animal organ morphogenesis Source: UniProtKB
Cell differentiation Source: UniProtKB-KW
Muscle organ development Source: UniProtKB
Negative regulation of cell growth Source: UniProtKB
Negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
Negative regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
Positive regulation of potassium ion transport Source: BHF-UCL
Regulation of membrane depolarization Source: BHF-UCL
Regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
Involvement in disease
Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6):
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Scapuloperoneal myopathy, X-linked dominant (SPM):
A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.
Myopathy, X-linked, with postural muscle atrophy (XMPMA):
A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder.
Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A):
A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure.
Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B):
A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies.
Uruguay faciocardiomusculoskeletal syndrome (FCMSU):
An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis.