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 SLCterminal 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 SLCterminal LIM domains. [provided by RefSeq, Jan 2010]
Function:
May function as an adapter in striated muscle to couple protein kinase SLCmediated signaling via its LIM domains to the cytoskeleton
Subunit:
Interacts via its LIM domains with various PKC isoforms. Interacts via its PDZ domain with the ACTN2 SLCterminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3.
Subcellular Location:
Cytoplasm, perinuclear region. Cell projection, pseudopodium. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines
Tissue Specificity:
Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
DISEASE:
Cardiomyopathy, dilated 1C (CMD1C) [MIM:601493]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Note=The disease is caused by mutations affecting the gene represented in this entry.
Left ventricular non-compaction 3 (LVNC3) [MIM:601493]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Myopathy, myofibrillar, 4 (MFM4) [MIM:609452]: A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 3 LIM zinc-binding domains.
Contains 1 PDZ (DHR) domain.
SWISS:
O75112
Gene ID:
11155
Database links:
Entrez Gene: 11155 Human
Entrez Gene: 24131 Mouse
Omim: 605906 Human
SwissProt: O75112 Human
SwissProt: Q9JKS4 Mouse
Unigene: 657271 Human
Unigene: 29733 Mouse
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