Contactin-associated protein-like 2 is a
protein that in humans is encoded by the ''CNTNAP2''
gene.
Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome
This gene encodes a member of the
neurexin family which functions in the vertebrate nervous system as
cell adhesion molecule
Cell adhesion molecules (CAMs) are a subset of cell surface proteins that are involved in the binding of cells with other cells or with the extracellular matrix (ECM), in a process called cell adhesion. In essence, CAMs help cells stick to each ...
s 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 associated with
potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the
human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.
Clinical significance
''CNTNAP2'' has been associated with
autism spectrum disorder
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
but accounts for very few cases. ''CNTNAP2'' may also be related to a disorder called
specific language impairment.
Recessive mutations in ''CNTNAP2'' result in a disorder that resembles
Pitt–Hopkins syndrome
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intelle ...
.
Interactions
CNTNAP2 has been shown to
interact with
CNTN2
Contactin-2 is a protein that in humans is encoded by the ''CNTN2'' gene.
Function
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein t ...
.
See also
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Brett Abrahams, geneticist and neuroscientist
References
External links
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Further reading
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