Mouse Anti-FHL1 Recombinant Antibody (CBXS-5627) (CBMAB-S0504-CQ)

four and a half LIM domains 1

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.

Four And A Half LIM Domains 1; Skeletal Muscle LIM-Protein 1; LIM Protein SLIMMER; SLIM-1; FHL-1; SLIM1; SLIM; Four-And-A-Half Lin11, Isl-1 And Mec-3 Domains 1; Four And A Half LIM Domains Protein 1; Four-And-A-Half LIM Domains 1;

May have an involvement in muscle development or hypertrophy.

Animal organ morphogenesis Source: UniProtKB
Cell differentiation Source: UniProtKB-KW
Muscle organ development Source: UniProtKB
Negative regulation of cell growth Source: UniProtKB
Negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
Negative regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
Positive regulation of potassium ion transport Source: BHF-UCL
Regulation of membrane depolarization Source: BHF-UCL
Regulation of potassium ion transmembrane transporter activity Source: BHF-UCL

Isoform 1: Cytoplasm
Isoform 2: Cytosol; Nucleus. Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes.

Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6):
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.
Scapuloperoneal myopathy, X-linked dominant (SPM):
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.
Myopathy, X-linked, with postural muscle atrophy (XMPMA):
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.
Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A):
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.
Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B):
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.
Uruguay faciocardiomusculoskeletal syndrome (FCMSU):
An 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.