Rabbit anti-Human CNTNAP2 Polyclonal Antibody

Uniprot Id

Q9UHC6

Target Species

Human

Target Name

CNTNAP2

Target Full Name

Contactin-associated protein-like 2

Target 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. Demarcates the juxtaparanodal region of the axo-glial junction.

Target Involvement

Autism 15 (AUTS15); Pitt-Hopkins-like syndrome 1 (PTHSL1)

Target Subcellular Location

Membrane; Single-pass type I membrane protein. Cell projection, axon. Cell junction, paranodal septate junction.

Target Protein Families

Neurexin family

Target Tissue Specificity

Predominantly expressed in nervous system.

Target Research Area

Neuroscience

Target Synonyms

AUTS15; CDFE; Cell recognition molecule Caspr2; CNTNAP2; CNTP2; CNTP2_HUMAN; Contactin-associated protein-like 2; Homolog of Drosophila neurexin IV; NRXN4; PTHSL1

Target Background

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability.