抗人 PDLIM3 抗体对
01AB01999
PDZ and LIM domain 3 (PDLIM3) is a cytoskeletal scaffold protein that is highly expressed in cardiac and skeletal muscle. It localizes to Z-discs and intercalated discs, where it binds α-actinin-2 via its N-terminal PDZ domain to organize actin filament arrays and maintain the structural integrity of the contractile apparatus. PDLIM3 is essential for the proper assembly and function of striated muscle. Clinically, mutations in PDLIM3 are associated with inherited cardiac arrhythmia syndromes, including Brugada syndrome 6 and atrial standstill 1. Furthermore, aberrant alternative splicing of this protein has been linked to myotonic dystrophy, suggesting that disruption of its scaffolding function contributes to the development of cardiomyopathy and skeletal muscle pathology.
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技术参数
- 靶点基因名
- PDLIM3
- 基因别名
- ALP
- 蛋白别名
- PDZ and LIM domain 3; PDLIM3
- UniProt
- Q53GG5
- 物种
- Human
产品详情
- 靶点名称
- PDLIM3
- 蛋白名称
- PDZ and LIM domain 3
- 蛋白别名
- PDZ and LIM domain protein 3; Actinin-associated LIM protein; Alpha-actinin-2-associated LIM protein
- 靶点基因名
- PDLIM3
- 基因别名
- ALP
- UniProt
- Q53GG5
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
PDZ and LIM domain 3 (PDLIM3) is a cytoskeletal scaffold protein that is highly expressed in cardiac and skeletal muscle. It localizes to Z-discs and intercalated discs, where it binds α-actinin-2 via its N-terminal PDZ domain to organize actin filament arrays and maintain the structural integrity of the contractile apparatus. PDLIM3 is essential for the proper assembly and function of striated muscle. Clinically, mutations in PDLIM3 are associated with inherited cardiac arrhythmia syndromes, including Brugada syndrome 6 and atrial standstill 1. Furthermore, aberrant alternative splicing of this protein has been linked to myotonic dystrophy, suggesting that disruption of its scaffolding function contributes to the development of cardiomyopathy and skeletal muscle pathology.