Aliases for LDB3 Gene
External Ids for LDB3 Gene
Previous HGNC Symbols for LDB3 Gene
Previous GeneCards Identifiers for LDB3 Gene
This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]
GeneCards Summary for LDB3 Gene
LDB3 (LIM Domain Binding 3) is a Protein Coding gene. Diseases associated with LDB3 include myopathy, myofibrillar, 4 and cardiomyopathy, dilated 1c. GO annotations related to this gene include cytoskeletal protein binding and muscle alpha-actinin binding. An important paralog of this gene is LIMS1.
UniProtKB/Swiss-Prot for LDB3 Gene
May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.