NP_001120959.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
filamin-C isoform b
NCBI Official Synonym Full Names
filamin C
NCBI Official Synonym Symbols
ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A [Similar Products]
NCBI Protein Information
filamin-C
UniProt Protein Name
Filamin-C
UniProt Synonym Protein Names
ABP-280-like protein; ABP-L; Actin-binding-like protein; Filamin-2; Gamma-filamin
UniProt Synonym Gene Names
NCBI Summary for FLNC
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for FLNC
FLNC: Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5). A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. Defects in FLNC are the cause of myopathy distal type 4 (MPD4). MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. Belongs to the filamin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 7q32.1
Cellular Component: costamere; cytoplasm; cytoskeleton; cytosol; focal adhesion; plasma membrane; sarcolemma; sarcoplasm; Z disc
Molecular Function: actin filament binding; ankyrin binding; cytoskeletal protein binding; protein binding
Biological Process: muscle fiber development
Disease: Cardiomyopathy, Familial Hypertrophic, 26; Myopathy, Distal, 4; Myopathy, Myofibrillar, 5
Research Articles on FLNC
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Products associated with anti-FLNC antibody
Pathways associated with anti-FLNC antibody
Diseases associated with anti-FLNC antibody
Organs/Tissues associated with anti-FLNC antibody
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