Disease-gene associations mined from literature

Literature associating NALCN and early infantile epileptic encephalopathy 11

NALCN [ENSP00000251127]

Sodium leak channel non-selective protein; Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability. Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity).

Synonyms:  NALCN,  A0A024RE05,  B3KMK1,  B3KX53,  Q8IZF0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM