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. GO annotations related to this gene include cytoskeletal protein binding and structural constituent of muscle. An important paralog of this gene is PDLIM4.
UniProtKB/Swiss-Prot for PDLIM3 Gene
May play a role in the organization of actin filament arrays within muscle cells.