Gene: LDB3

Alternate names for this Gene: CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.2

Description of this Gene: LIM domain binding 3

Type of Gene: protein-coding

rs121908336 in LDB3 gene and CARDIOMYOPATHY, DILATED, 1C (disorder) PMID 14662268 2003 Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

PMID 14660611 2004 A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

rs184737911 in LDB3 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs121908334 in LDB3 gene and Neuromuscular Diseases PMID 19377068 2009 Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.

PMID 27618136 2016 Mitochondrial dysfunction in myofibrillar myopathy.

PMID 24647531 2014 ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.

PMID 24668811 2014 Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

PMID 15668942 2005 Mutations in ZASP define a novel form of muscular dystrophy in humans.

PMID 18765652 2008 Distinct muscle imaging patterns in myofibrillar myopathies.

PMID 17337483 2007 Zaspopathy in a large classic late-onset distal myopathy family.

PMID 28349680 2017 Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.