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Recombinant Human Sodium leak channel non-selective protein (NALCN), partial

Recombinant Human Sodium leak channel non-selective protein (NALCN), partial

Code
MSDS	MSDS Datasheet
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Source
Conjugate
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Target Background

Product Details

Abbreviation

NALCN

Purity

>85% (SDS-PAGE)

Target Names

NALCN

Uniprot NO.

Q8IZF0

Alternative Names

A530023G15Rik; bA430M15.1; CanIon; Canlon; FLJ23913 ; FLJ44659; FLJ44764; Four repeat voltage gated ion channel; MGC74524; Nalcn; NALCN_HUMAN; Putative 4 repeat voltage gated ion channel; Sodium leak channel non-selective protein; sodium leak channel, non selective; Vgcnl1; VGCNL1 protein; voltage gated channel like 1; Voltage gated channel-like protein 1

Species

Homo sapiens (Human)

Source

Yeast

Protein Length

Partial

Tag Info

N-terminal His-tagged/Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Storage Condition

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

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Target Background

Function(From Uniprot)

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.

Gene References into Functions

9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. PMID:29968795
NALCN variant is associated with neurodevelopmental diseases. PMID:30167850
UNC80 bridges between UNC79 and the cation channel NALCN. PMID:26545877
Study identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized congenital contractures of the limbs and face with hypotonia and developmental delay. Clinical phenotype and electrophysiologic studies show sustained muscular contraction in response to transient sensory stimuli. PMID:27558372
The present data support previous work suggesting heterozygous NALCN mutations lead to syndromic neurodevelopmental impairment. PMID:26763878
Two patients with novel mutations (p.F317C and p.V595F) and distal arthrogryposis and central hypertonicity are described. PMID:27214504
Our patients broaden the clinical spectrum associated with recessive mutations in NALCN, featuring also disrupted respiratory rhythm mimicking homozygous Nalcn knockout mice. PMID:26923739
Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term, non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium. PMID:26134120
UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex PMID:26708753
We used exome and targeted next-generation sequencing to identify de novo mutations in NALCN as the cause of a newly delineated condition, CLIFAHDD syndrome. PMID:25683120
This study found a plausible association, though not statistically confirmed, of cervical dystonia with SNPs in the NALCN region. PMID:24227479
NALCN is the gene responsible for INAD with facial dysmorphism PMID:23749988
Two mutations, one missense and one nonsense, in NALCN in two unrelated families. PMID:24075186
This study observed nominal association with rs9518320 and rs9518331, suggesting that NALCN is not related to schizophrenia risk. PMID:20674038
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID:20889312
Observational study of gene-disease association. (HuGE Navigator) PMID:20674038
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID:20379614
UNC80 functions as a scaffold for Src kinases in NALCN channel function. PMID:19535918
Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation, and provide new insights into the properties of NALCN channels. PMID:19575010
Observational study of gene-disease association. (HuGE Navigator) PMID:19308021