Neuropathy, hereditary sensory and autonomic, type VII; HSAN7

Disease ID:681
Name:Neuropathy, hereditary sensory and autonomic, type VII; HSAN7
Associated with:1 target
Synonyms
Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathy type 7
Database Links
Disease Ontology: DOID:11533
OMIM: 615548
Orphanet: ORPHA391397

Targets

Nav1.9
Role:  The L811P mutation hyperpolarises activation by -26mV, and slows deactivation in knock-in mice. The human mutation expressed in a ND7/23 cell line hyperpolarises activation by -28mV, slows deactivation, and depolarizes V1/2 for inactivation by 2.5mV.
References:  1
Mutations:  Nav1.9 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Neuropathy, hereditary sensory and autonomic, type VII; HSAN7

References

Show »

1. Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC et al.. (2013) A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat. Genet., 45 (11): 1399-404. [PMID:24036948]