Entrez Summary: 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].
UniProt Summary: May play a role in the organization of actin filament arrays within muscle cells. {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
PDZ
LIM
GO Terms
muscle alpha-actinin binding
filamentous actin
structural constituent of muscle
stress fiber
cell-cell adherens junction
Z disc
actin filament organization
actin binding
supramolecular fiber organization
muscle structure development
actin cytoskeleton organization
heart development
actin filament-based process
circulatory system development
cytoskeleton organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)