PDLIM3

Description

The PDLIM3 (PDZ and LIM domain 3) is a protein-coding gene located on chromosome 4.

Actin-associated LIM protein (ALP), also known as PDZ and LIM domain protein 3, is a protein encoded by the PDLIM3 gene in humans. ALP is highly expressed in cardiac and skeletal muscle, where it localizes to Z-discs and intercalated discs. ALP enhances the crosslinking of actin by alpha-actinin-2 and is crucial for right ventricular chamber formation and contractile function. ALP exists in two main forms due to alternative splicing: a 39.2 kDa (364 amino acids) protein in skeletal muscle and a 34.3 kDa (316 amino acids) protein in cardiac and smooth muscle. ALP has a N-terminal PDZ domain and a C-terminal LIM domain, along with a unique 34 amino acid ALP-like motif containing protein kinase C consensus sequences. The PDZ domain of ALP binds to alpha actinin-2, specifically to its spectrin-like repeats. PDZ domains are typically 80-120 amino acids long with conserved GLGF sequences that interact with C-termini of cytoskeletal proteins. The heterogeneity between the two isoforms lies between the PDZ and LIM domains. ALP is located on chromosome 4q35.

PDLIM3 is also known as ALP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing