Sodium Leak Channel, Nonselective

Alternative Names

NALCN

Length

363,430 bases

No. of Exons

No. of isoforms

Protein Name

Sodium leak channel non-selective protein

Molecular Mass

200331 Da

Amino Acid Count

1738

Genomic Location

chr13:101,053,776-101,417,205

Gene Map Locus

13q32.3-q33.1

Description

This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001350748.2:c.1489del	Saudi Arabia	chr13:101229530	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.192677del; NM_001350748.2:c.1489del; NP_001337677.1:p.Tyr497fs	869025188	88686
NM_001350748.2:c.1567A>G	Lebanon	chr13:101229452	Likely Benign	Likely Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.192755A>GNP_001337680.1:p.Ile494Val	150580612	701964
NM_001350748.2:c.1593C>T	Morocco	chr13:101229426	Benign	Benign		NG_053176.1:g.192781C>T; NM_001350748.2:c.1593C>T; NP_001337677.1:p.Val531=	3916906	262250
NM_001350748.2:c.1764+21dup	Morocco	chr13:101191904		Benign		NG_053176.1:g.230311dup; NM_001350748.2:c.1764+21dup	5806198
NM_001350748.2:c.2522dupA	Tunisia	NC_000013.11:g.101107725dup	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.314488dup	1594218864	684705
NM_001350748.2:c.2621_2622insATACTAAA	United Arab Emirates	NC_000013.11:g.101107531_101107532insTTTAGTAT		Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.314675_314676insATACTAAA; NM_001350748.2:c.2621_2622insATACTAAA; NP_001337677.1:p.Phe875TyrfsTer2
NM_001350748.2:c.2758del	Egypt	chr13:101104618	Likely Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.317591del; NM_001350748.2:c.2758del; NP_001337677.1:p.Val920fs	1594211911	813894
NM_001350748.2:c.2845del	Egypt	chr13:101104426	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.317781del; NM_001350748.2:c.2845del; NP_001337677.1:p.Ile949fs	1594211334	684710
NM_001350748.2:c.321G>A	Saudi Arabia	chr13:101378624	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.43583G>A; NM_001350748.2:c.321G>A; NP_001337677.1:p.Trp107Ter	1594761911	684709
NM_001350748.2:c.3643C>T	Tunisia	chr13:101083738	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.338469C>T; NM_001350748.2:c.3643C>T; NP_001337677.1:p.Gln1215Ter	1594168638	684704
NM_001350748.2:c.3657T>C	Morocco	chr13:101083724	Benign	Benign		NG_053176.1:g.338483T>C; NM_001350748.2:c.3657T>C ; NP_001337677.1:p.Leu1219=	686141	262260
NM_001350748.2:c.3947G>T	Lebanon; Saudi Arabia	chr13:101081552	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.340655G>T; NM_001350748.2:c.3947G>T; NP_001337677.1:p.Trp1316Leu	587777068	88687
NM_001350748.2:c.4042-50CT[5]	Morocco	chr13:101074694-101074695	Benign	Benign		NG_053176.1:g.347495_347496CT[5]; NM_001350748.2:c.4042-50CT[5]	34229756	802996
NM_001350748.2:c.4237C>T	Saudi Arabia	chr13:101073631	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.348576C>TNP_001337677.1:p.Arg1413Ter	1031314447	684708
NM_001350748.2:c.4420A>T	Morocco	chr13:101068031	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.354176A>T; NM_001350748.2:c.4420A>T; NP_001337677.1:p.Ile1474Leu	1459166839	684706
NM_001350748.2:c.4503A>C	Morocco	chr13:101067948	Benign	Benign		NG_053176.1:g.354259A>C; NM_001350748.2:c.4503A>C; NP_001337677.1:p.Ile1501=	1289556	262263
NM_001350748.2:c.537del	Egypt	chr11:101376808	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.45400del; NM_001350748.2:c.537del; NP_001337677.1:p.Ile178_Trp179insTer	1594759803	684711
NM_052867.4:c.3056dupT	Lebanon	NC_000013.11:g.101103179dup	Pathogenic	Likely Pathogenic, Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	NG_053176.1:g.319034dupT; NM_052867.4:c.3056dupT; NP_443099.1:p.Leu1019Phefs	772394714	684701

Download Table

External Links

https://ghr.nlm.nih.gov/gene/NALCN https://www.genecards.org/cgi-bin/carddisp.pl?gene=NALCN

Contributors

Asha Deepthi: 12.07.2022
Pratibha Nair: 09.12.2020
Pratibha Nair: 28.09.2020
Pratibha Nair: 20.04.2020

Edit History

Asha Deepthi: 12.07.2022
Pratibha Nair: 09.12.2020
Pratibha Nair: 30.09.2020
Pratibha Nair: 28.09.2020
Pratibha Nair: 20.04.2020

Back to search Result