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 molecules and receptors. This protein, like other neurexin proteins, contains
epidermal growth factor
Epidermal growth factor (EGF) is a protein that stimulates cell growth and differentiation by binding to its receptor, EGFR. Human EGF is 6-k Da and has 53 amino acid residues and three intramolecular disulfide bonds.
EGF was originally descr ...
repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin
N-terminal
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the ami ...
-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 but accounts for very few cases. ''CNTNAP2'' may also be related to a disorder called
specific language impairment
Specific language impairment (SLI) (the term developmental language disorder is preferred by some) is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development, physical ...
.
Recessive mutations in ''CNTNAP2'' result in a disorder that resembles
Pitt–Hopkins syndrome.
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 th ...
.
See also
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Brett Abrahams, geneticist and neuroscientist
References
External links
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Further reading
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