Gene Symbol | FLNC |
Entrez Gene ID | 2318 |
Full Name | filamin C |
Synonyms | ABP-280,ABP280A,ABPA,ABPL,CMH26,FLN2,MFM5,MPD4,RCM5 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myopathy, myofibrillar, 5, 609524 (3); Myopathy, distal, 4, 614065 (3); Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3) |