CNTN4

Chr 3

contactin 4

Also known as: AXCAM, BIG-2

NCBI Gene: 152330 ENSG00000144619 UniProt: Q8IWV2 OMIM: 607280

The protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that mediates cell surface interactions during nervous system development and promotes neurite outgrowth. Mutations cause 3p deletion syndrome and are associated with autism spectrum disorders, with autosomal dominant inheritance. The gene is highly intolerant to loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…