FHL1 Antibody – Rabbit Polyclonal

FHL1 iso1: May have an involvement in muscle development or hypertrophy. Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM). Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear. Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA). Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies. Defects in FHL1 are the cause of X-linked severe early- onset reducing body myopathy (RBM). RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases. Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM). This disorder is allelic to severe early-onset reducing body myopathy (RBM). 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: Xq26

Cellular Component: focal adhesion; cytoplasm; plasma membrane; nucleus; cytosol

Molecular Function: protein binding; zinc ion binding

Biological Process: organ morphogenesis; muscle development; positive regulation of potassium ion transport; negative regulation of cell growth; cell differentiation

Disease: Myopathy, Reducing Body, X-linked, Early-onset, Severe; Myopathy, Reducing Body, X-linked, Childhood-onset; Myopathy, X-linked, With Postural Muscle Atrophy; Scapuloperoneal Myopathy, X-linked Dominant