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CNTNAP2

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 (FOXP2), 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 mental retardation.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Inhibitory neurons, Excitatory neurons)

Immune cell specificity

Immune cell enhanced (naive B-cell)

Cell line specificity

Cell line enhanced (AF22, CACO-2, NTERA-2, SCLC-21H)

Interaction

Interacts (via C-terminus) with KCNA2.

More Types Infomation

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