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Q13642 Proteins LIM zinc-binding domain Repeats
Uniprot ID:Q13642
Protein name: Four and a half LIM domains protein 1
Gene : FHL1 SLIM1
Protein Family:
Squence Length : 323
Sequnce
>Q13642 324 MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP
Domains
DOMAIN 40 92 LIM zinc-binding 1 DOMAIN 101 153 LIM zinc-binding 2 DOMAIN 162 212 LIM zinc-binding 3
LIM zinc-binding sequence regions
40 - 92 ECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTT 101 - 153 GCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHE 162 - 212 KCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYK
Function
May have an involvement in muscle development or hypertrophy
Disease
"DISEASE: Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]: 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 Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry ; DISEASE: Scapuloperoneal myopathy, X-linked dominant (SPM) [MIM:300695]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Uruguay faciocardiomusculoskeletal syndrome (FCMSU) [MIM:300280]: A 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 Note=The disease is caused by mutations affecting the gene represented in this entry"