基因名称(Gene Name)
LDB3 KIAA0613 ZASP
蛋白名称
LIM domain-binding protein 3 (Protein cypher) (Z-band alternatively spliced PDZ-motif protein)
免疫原
Synthesized peptide derived from human protein . at AA range: 41-90
特异性
LDB3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
IDH1; PICD; Isocitrate dehydrogenase [NADP] cytoplasmic; IDH; Cytosolic NADP-isocitrate dehydrogenase; IDP; NADP(+)-specific ICDH; Oxalosuccinate decarboxylase
背景
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 (
功能
disease:Defects in LDB3 are a cause of dilated cardiomyopathy with left ventricular non-compaction [MIM:601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.,disease:Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,disease:Defects in LDB3 are the cause of ZASP-related myofibrillar myopathy (MFM) [MIM:609452]. It is an autosomal dominant MFM that is characterized by distal more than proximal muscle weakness with signs of cardiomyopathy and neuropathy.,function:May function as an adapter in striated muscle to couple p
