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FHL1  蛋白,抗体,试剂盒,cDNA克隆

FHL1 相关研究领域

FHL1 相关信号通路

    FHL1 概述&蛋白信息

    FHL1 研究背景

    亚细胞定位: Isoform 1: Cytoplasm.; Isoform 3: Cytoplasm. Nucleus.; Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
    组织特异性: Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle. {ECO:0000269|PubMed:10352231, ECO:0000269|PubMed:10480922, ECO:0000269|PubMed:10524257, ECO:0000269|PubMed:11400158, ECO:0000269|PubMed:9714789}.
    发育阶段: Elevated levels during postnatal muscle growth. {ECO:0000269|PubMed:7626119}.
    相关疾病 : 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. {ECO:0000269|PubMed:18179901}. 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. {ECO:0000269|PubMed:18179888}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Myopathy, reducing body, X-linked, early-onset, severe (RBM) [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. {ECO:0000269|PubMed:18274675}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Myopathy, reducing body, X-linked, childhood-onset (CO-RBM) [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.
    相似的序列: Contains 3 LIM zinc-binding domains. {ECO:0000255|PROSITE-ProRule:PRU00125}.
    General information above from UniProt

    FHL1 别称

    KYOT,SLIM,FHL-1,FHL1A,FHL1B,FLH1A,SLIM1,XMPMA,SLIM-1,SLIMMER, [homo-sapiens]
    KyoT,SLIM,FHL-1,SLIM-1,RAM14-1, [mus-musculus]

    FHL1 相关文献

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