Anti-Caspr2 antibody (ab50206)

Function

May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction.

Tissue specificity

Predominantly expressed in nervous system.

Involvement in disease

Defects in CNTNAP2 are the cause of cortical dysplasia-focal epilepsy syndrome (CDFES) [MIM:610042]. 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 (AUTS15) [MIM:612100]. Autism 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.
Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

Sequence similarities

Belongs to the neurexin family.
Contains 2 EGF-like domains.
Contains 1 F5/8 type C domain.
Contains 1 fibrinogen C-terminal domain.
Contains 4 laminin G-like domains.

Cellular localization

Membrane.

Alternative names

Database links