DISEASES

Disease-gene associations mined from literature

Literature associating CNTNAP1 and Charcot-Marie-Tooth disease type 4E

CNTNAP1 [ENSP00000264638]

Contactin associated protein 1; Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.

Synonyms:  CNTNAP1,  CNTNAP1p,  hCNTNAP1,  CNTNAP1-001,  CNTNAP1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM