Aliases for NALCN Gene
External Ids for NALCN Gene
Previous HGNC Symbols for NALCN Gene
Previous GeneCards Identifiers for NALCN Gene
NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008]
GeneCards Summary for NALCN Gene
NALCN (Sodium Leak Channel, Non-Selective) is a Protein Coding gene. Diseases associated with NALCN include Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay and Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is CACNA1A.
UniProtKB/Swiss-Prot for NALCN Gene
Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). 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).