Function
Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers.
Biological Context
Subcellular Location: Membrane (Single-pass type I membrane protein); Cell projection, axon; Cell junction, paranodal septate junction
Tissue Specificity: Predominantly expressed in nervous system
Disease Association: Autism 15 (AUTS15) : A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. [Disease susceptibility is associated with variants affecting the gene represented in this entry] | [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] | Pitt-Hopkins-like syndrome 1 (PTHSL1) : A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Contactin-associated protein-like 2 (CNTNAP2), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 35-181aa, with N-terminal 6xHis-tagged tag, molecular weight 20.5kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
