CNTNAP2 / CASPR2 Antikörper

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Proteine:

Antikörper:

Contactin-associated protein-like 2, also known as Cell recognition molecule Caspr2, CNTNAP2 and CASPR2, is a single-pass type I membrane protein which belongs to the neurexin family. CNTNAP2 contains two EGF-like domains, one F5/8 type C domain, one fibrinogen C-terminal domain, fourlaminin G-like domains. Defects in CNTNAP2 are the cause of cortical dysplasia-focal epilepsy syndrome (CDFES). Affected individuals manifest cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. Genetic variations in CNTNAP2 influences susceptibility to autism type 15 which is a neurodevelopmental disorder characterized by disturbance in language, perception and socialization. The disorder is classically defined by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior.

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