Aliases for SCN7A Gene
- Sodium Voltage-Gated Channel Alpha Subunit 7 2 3 5
- Sodium Channel Protein Cardiac And Skeletal Muscle Subunit Alpha 3 4
- Putative Voltage-Gated Sodium Channel Subunit Alpha Nax 3 4
- Sodium Channel, Voltage-Gated, Type VII, Alpha Subunit 2 3
- Sodium Channel Protein Type VII Subunit Alpha 3 4
- Sodium Channel Protein Type 7 Subunit Alpha 3 4
- SCN6A 3 4
External Ids for SCN7A Gene
Previous HGNC Symbols for SCN7A Gene
Previous GeneCards Identifiers for SCN7A Gene
This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
GeneCards Summary for SCN7A Gene
SCN7A (Sodium Voltage-Gated Channel Alpha Subunit 7) is a Protein Coding gene. Diseases associated with SCN7A include Normokalemic Periodic Paralysis and Generalized Epilepsy With Febrile Seizures Plus, Type 1. Among its related pathways are Activation of cAMP-Dependent PKA and Developmental Biology. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is SCN9A.
UniProtKB/Swiss-Prot Summary for SCN7A Gene
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.