CNTNAP4 Chromosome 16
Contactin associated protein family member 4
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What This Gene Does
This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein 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, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Contactin associated protein family
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000152910
Associated Conditions (1)
CNTNAP4-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1214977180 | Health Risk | Conflicting classifications of pathogenicity | CNTNAP4-related disorder, CNTNAP4-related disorder |