Disease-gene associations mined from literature

Literature associating SCN8A and autosomal dominant severe congenital neutropenia

SCN8A [ENSP00000346534]

Sodium channel, voltage gated, type VIII, alpha subunit; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.

Synonyms:  SCN8A,  SCN8Ap,  hSCN8A,  F8VRN5,  F8VWM7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM