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DrugBank target: P35499

DrugBank target: P35499 (SCN4A_HUMAN)     

Sodium channel protein type 4 subunit alpha

SkM1, Sodium channel protein skeletal muscle subunit alpha, Sodium channel protein type IV subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.4.

Function

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 Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle..

Disease(s)

Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]: An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP. Note=The disease is caused by mutations affecting the gene represented in this entry.
Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. Note=The disease is caused by mutations affecting the gene represented in this entry.
Periodic paralysis hyperkalemic (HYPP) [MIM:170500]: An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Periodic paralysis normokalemic (NKPP) [MIM:170500]: A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this entry.
Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]: A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A- related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise. Note=The disease is caused by mutations affecting the gene represented in this entry.
Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR) [MIM:614198]: A congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation. Note=The disease is caused by mutations affecting the gene represented in this entry.

Structures

There are currently no structures for this UniProt code in the PDB.

Schematic diagram of Pfam domains in target sequence

Key:    PfamA domain

Sequence length: 1836 a.a.

Approved drugs targeting this protein

The DrugBank database identifies 4 drugs for this target protein:

 

Generic name: DB00818 propofol
PFL
Formula: C12H18O
Structure: There are 3 PDB structures containing this molecule although none are bound to the above target protein.
Generic name: DB00909 zonisamide
ZON
Formula: C8H8N2O3S
Structure: There is one PDB structure containing this molecule but it is not bound to the above target protein.
 
Generic name: DB01195 flecainide
Formula: C17H20F6N2O3
Structure: There are no structures of this molecule in the PDB.
Generic name: DB00586 diclofenac
DIF
Formula: C14H11Cl2No2
Structure: There are 11 PDB structures containing this molecule although none are bound to the above target protein.

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