Aliases for PDLIM3 Gene
External Ids for PDLIM3 Gene
Previous GeneCards Identifiers for PDLIM3 Gene
The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]
GeneCards Summary for PDLIM3 Gene
PDLIM3 (PDZ And LIM Domain 3) is a Protein Coding gene. Diseases associated with PDLIM3 include Facioscapulohumeral Muscular Dystrophy 1 and Mitochondrial Dna Depletion Syndrome 7. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding and structural constituent of muscle. An important paralog of this gene is PDLIM1.
UniProtKB/Swiss-Prot for PDLIM3 Gene
May play a role in the organization of actin filament arrays within muscle cells.