CNTNAP2
Encyclopedia
Contactin-associated protein-like 2 is a protein
that in humans is encoded by the CNTNAP2 gene
.
This gene encodes a member of the neurexin
family which functions in the vertebrate nervous system as cell adhesion molecule
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 channel
s. 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.
CNTNAP2 has recently been associated with autism spectrum disorder but accounts for very few cases.
CNTNAP2 may also be related to a disorder called specific language impairment
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the CNTNAP2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
This gene encodes a member of the neurexin
Neurexin
A neurexin is a presynaptic protein that helps to glue together neurons at the synapse. Neurexins are type I membrane proteins that can be classified into two types, α-NRXNs and β-NRXNs. The α-NRXNs are larger and have different amino-terminal extracellular sequences...
family which functions in the vertebrate nervous system as cell adhesion molecule
Cell adhesion molecule
Cell Adhesion Molecules are proteins located on the cell surface involved with the binding with other cells or with the extracellular matrix in the process called cell adhesion....
s and receptors. This protein, like other neurexin proteins, contains epidermal growth factor
Epidermal growth factor
Epidermal growth factor or EGF is a growth factor that plays an important role in the regulation of cell growth, proliferation, and differentiation by binding to its receptor EGFR...
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 channel
Potassium channel
In the field of cell biology, potassium channels are the most widely distributed type of ion channel and are found in virtually all living organisms. They form potassium-selective pores that span cell membranes...
s. 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
Human genome
The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining...
. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.
CNTNAP2 has recently 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
Specific language impairment is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development , physical abnormality of the speech apparatus, autistic disorder, acquired brain damage or hearing loss.-Overview:Specific...
.