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EPEO5

Chr 1AR

contactin 2

Also known as: AXT, EPEO5, FAME5, TAG-1, TAX, TAX1

NCBI Gene: 6900 OMIM: 615400

The protein is a GPI-anchored neuronal membrane glycoprotein that regulates proliferation, migration, and axon guidance of developing cerebellar neurons. Mutations cause autosomal recessive early-onset epilepsy with or without developmental delay. The early onset and potential developmental consequences reflect the protein's critical role in cerebellar neuronal development.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— EPEO5

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/EPEO5?content-type=application/json&expand=1

gnomad: Error: Gene not found