Disease-gene associations mined from literature

Literature associating SCN11A and autosomal dominant severe congenital neutropenia

SCN11A [ENSP00000307599]

Sodium channel, voltage-gated, type XI, alpha subunit; This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization; Sodium voltage-gated channel alpha subunits

Synonyms:  SCN11A,  SCN11Ap,  hSCN11A,  Q9UI33,  NaN ...

Linkouts:  STRING  Pharos  UniProt  OMIM