The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features.
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
- HGNC Gene Family: Fibronectin type III domain containing
- HGNC Gene Family: I-set domain containing
- HGNC Gene Family: Ig-like cell adhesion molecule family
- HGNC Gene Family: Immunoglobulin like domain containing
- HGNC Gene Symbol Report
- NCBI Gene