Contactin-associated protein-like 5 (CNTNAP5)

Contactin-associated protein-like 5 (CNTNAP5) is a member of the neurexin family of cell adhesion molecules, structurally characterized by multiple protein domains including epidermal growth factor-like repeats, laminin G domains, and F5/8 type C, discoidin, and thrombospondin N-terminal-like domains[1][2][3][6]. Expressed primarily in the nervous system, it is especially enriched in myelinated axons, where it is implicated in the formation and maintenance of axonal structure and neural communication pathways[1][2]. Functional studies, including zebrafish knockdown models, demonstrate *CNTNAP5*’s critical involvement in the organization and survival of retinal neurons, with deficiency leading to disrupted eye and retinal structure, heightened apoptosis, and neurodegeneration[2]. Genetic association studies link *CNTNAP5* to autism spectrum disorder, dyslexia, and notably to primary angle-closure glaucoma, where certain *CNTNAP5* variants modulate the structural integrity of the retina and may influence disease progression through effects on neural and synaptic development or maintenance[1][2][6]. While no targeted therapeutics currently exist for CNTNAP5, its role in neurodevelopmental and neurodegenerative disease mechanisms makes it a promising candidate for further investigation as a novel therapeutic target[2].

Other names

CASPR5FLJ31966Cell recognition molecule Caspr5contactin associated protein family member 5contactin associated protein like 5CNTNAP5caspr5