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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Together with CALHM3, forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells (TBCs). Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.
基因功能參考文獻:
Meta-analysis suggested that CALHM1 rs2986017 might be associated with increased Alzheimer's disease risk in Caucasian, but not Asian population PMID: 26700797
In the presence of antibody, P86L-CALHM1 shifts the balance between neurodegeneration and neuronal survival toward the stimulation of pro-cytotoxic pathways, thus potentially contributing to its deleterious effects in Alzheimer's disease. PMID: 26416646
CALHM1 polymorphism may be potential biomarker in patients with Alzheimer disease. [meta-analysis] PMID: 26944452
The rare R154H variant interferes with CALHM1 control of cytosolic Ca2+ and Abeta accumulation. PMID: 25386646
CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population. PMID: 24630757
This study showed that No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population PMID: 24326043
rare genetic variants in CALHM1 lead to Ca(2+) dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Ass cascade. PMID: 24069280
The study identifies a previously uncharacterized mechanism of control of Ca(2+)-dependent ERK1/2 signaling in neurons, and further establishes CALHM1 as a critical ion channel for neuronal signaling and function. PMID: 23345406
Our data show that CLHM-1 is a functionally conserved ion channel that plays an important but potentially toxic role in excitable cell function. PMID: 23884934
Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins. PMID: 23300080
CALHM1 is a voltage-gated ATP-release channel required for sweet, bitter and umami taste perception PMID: 23467090
A TGG haplotype defined by the rs4918016-rs2986017-rs2986018 block was associated with sporadic Creutzfeldt-Jakob disease. PMID: 22874670
An association between the CALHM1 polymorphism and the risk for Alzheimer's disease, was not detected. PMID: 21378601
Data show a significant association of CALHM1 P86L with elevated CSF Abeta42 and Abeta40 in the normal cohort at risk for Alzheimer's disease. PMID: 21629967
CALHM1 increases Ca(2+) leak from the ER and, more importantly, reduces the endoplasmic reticulum Ca(2+) uptake by decreasing both the transport capacity and the Ca(2+) affinity of SERCA. PMID: 21574960
These results indicate that the CALHM1 Pro86Leu polymorphism may modulate age of onset of Alzheimer's disease by interacting with the effect of the epsilon4 allele of apolipoprotein E. PMID: 20847397
The results of this study provide the first evidence that the SNP rs11191692 in CALHM1 confers highly increased susceptibility to temporal lobe epilepsy. PMID: 21439911
This study demonistrated that CALHM1 allele (13.5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls. PMID: 19545933
the CALHM1 P86L common variant may not influence Alzheimer disease risk in Japanese PMID: 19655363
Meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20847397
This study for the first time finds that the GOLPH2 modifies the ApoE[varepsilon]4-associated risk of Alzheimer's disease. PMID: 20592574
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20534741
Observational study of gene-disease association. (HuGE Navigator) PMID: 20574532
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20592574
Observational study of gene-disease association. (HuGE Navigator) PMID: 20634593
This study failed to show an association between theeight SNPs of the CALHM1 genes and alzheimer disease. PMID: 20164573
The CALHM1-P86L polymorphism is associated with Alzheimer's disease in the ethnic Chinese Han population. PMID: 20061624
The present study might help to highlight the CALMH1gene as an excellent candidate for AD genetic susceptibility. PMID: 20164592
The results of this study did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various populations. PMID: 20164602
we found no evidence that CALHM1 P86L is associated with altered CSF levels of the investigated Alzheimer's disease biomarkers A beta 42, tau and phospho-tau PMID: 20005921
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20164573
Observational study and meta-analysis of gene-disease association. (HuGE Navigator) PMID: 20164592
Observational study of gene-disease association. (HuGE Navigator) PMID: 20164602
Cells carrying the P86L mutation of CALHM1 channel may have mitochondria more vulnerable to Ca2+ overload and to apoptotic stimuli. PMID: 19944073
Study determined that the CALHM1 P86L polymorphism is associated with Alzheimer's disease, further found that the P86L polymorphism increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability. PMID: 18585350
[Review] Expression of CALHM1 is found in all brain regions and cells of neuronal lineage; it localizes predominantly to the endoplasmic reticulum but also exists at the plasma membrane, where it forms a novel calcium influx route to the cytosol. PMID: 18667147
Protein may be a genetic determinant of Alzheimer disease, since a polymorphism reduces calcium permeability. PMID: 19038093
Study assessed the potential association between Alzheimer's Disease risk and the Pro86Leu variant in the CALHM1 gene; no association was observed, either in the individual samples or in the combined analyses of more than 8100 subjects PMID: 19070563
No association with risk of late-onset Alzheimer disease (p=0.368 for genotypes; p=0.796 for alleles) was observed in the study, however, a potential modest association of minor allele homozygosity (TT) with an earlier age-at-onset was seen. PMID: 19191331
Study suggests the polymorphism does not contribute significantly to Alzheimer dementia risk in the Belgian population. PMID: 19191332
CALHM1 polymorphism is not associated with late-onset Alzheimer disease. PMID: 19472444
Observational study of gene-disease association. (HuGE Navigator) PMID: 20005921
Observational study of gene-disease association. (HuGE Navigator) PMID: 20061624
Observational study of gene-disease association. (HuGE Navigator) PMID: 19655363
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 19545933
Observational study of gene-disease association. (HuGE Navigator) PMID: 19472444
Observational study of gene-disease association. (HuGE Navigator) PMID: 19191331
Observational study of gene-disease association. (HuGE Navigator) PMID: 19191332
Observational study of gene-disease association. (HuGE Navigator) PMID: 18585350
Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells. Specifically expressed in circumvallate taste bud cells.