FHL1  Protein, Antibody, ELISA Kit, cDNA Clone

FHL1 Related Area

FHL1 관련 경로

    FHL1 요약 및 단백질 정보

    FHL1 배경

    세포하 위치: Isoform 1: Cytoplasm.; Isoform 3: Cytoplasm. Nucleus.; Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
    조직 특이성: 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}.
    발생 단계: Elevated levels during postnatal muscle growth. {ECO:0000269|PubMed:7626119}.
    질병과의 관련성: 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.
    염기서열 유사성: Contains 3 LIM zinc-binding domains. {ECO:0000255|PROSITE-ProRule:PRU00125}.
    General information above from UniProt

    FHL1 대체 이름

    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 관련 연구

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