クイック注文

FHL1  Protein, Antibody, ELISA Kit, cDNA Clone

FHL1 Related Area

FHL1 関連経路

    FHL1 サマリー & タンパク質情報

    FHL1 背景

    細胞内位置: Isoform 1: Cytoplasm.; Isoform 3: Cytoplasm. Nucleus.; Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.
    組織特異性: 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}.
    発生段階: Elevated levels during postnatal muscle growth. {ECO:0000269|PubMed:7626119}.
    疾患関連性: 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.
    シーケンスの類似性: Contains 3 LIM zinc-binding domains. {ECO:0000255|PROSITE-ProRule:PRU00125}.
    General information above from UniProt

    FHL1 代替名

    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 関連研究

    注意:すべての製品は、"研究目的のみに使用するものであり、診断または治療目的に使用するものではありません"