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Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.
基因功能參考文獻(xiàn):
SNPs of the KALRN gene are associated with intracranial atherosclerotic stenosis in the northern Chinese population. PMID: 30232674
Combination of polymorphisms in the NOD2, IL17RA, EPHA2 and KALRN genes could play a significant role in the development of sarcoidosis by maintaining a chronic pro-inflammatory status in macrophages PMID: 29554915
The GG genotype and G allele of SNP rs7620580 were associated with a risk for ischemic stroke with an adjusted OR of 3.195 and an OR of 1.446, respectively. Haplotype analysis revealed that A-T-G,G-T-A, and A-T-A haplotypes were associated with ischemic stroke. Our results provide evidence that kalirin gene variations were associated with ischemic stroke in the Chinese Han population. PMID: 28706949
DNA sequencing provided evidence linking KALRN to monogenic intellectual disability in two patients. PMID: 27421267
Data suggest protein levels of kalirin and CHD7 in circulating extracellular vesicles (EVs) as endothelial dysfunction markers to monitor vascular condition in hypertensive patients with albuminuria. PMID: 28152519
GG genotype and the G allele of the rs9289231 polymorphism of KALRN and the rs224766 polymorphism of ADIPOQ genes may be considered genetic risk factors for Iranian type 2 diabetic patients with coronary artery disease. PMID: 27218147
4 KALRN gene SNPs were studied in Han ischemic stroke patients. rs11712619 seemed associated with lacunar stroke until risk factors were considered. re6438833 was significantly associated with ischemic and lacunar stroke. PMID: 25917671
consider the GG genotype and the G allele of rs9289231 polymorphism of KALRN to be genetic risk factors for CAD in an Iranian population, especially in early-stage atherosclerotic vascular disease PMID: 25316661
A sequence variant in human KALRN impairs protein ability to activate Rac1 and coincides with reduced cortical thickness. PMID: 25224588
The kalirin expression were reduced in Alzheimer disease with psychosis. PMID: 22429885
The age-at-onset of Huntington disease (HD) is not associated with eleven SNPs, including SNP rs10934657 in the kalirin gene in 680 European HD patients. PMID: 22720673
Neuronal guanine nucleotide exchange factor (GEF) kalirin is emerging as a key regulator of structural and functional plasticity at dendritic spines. PMID: 22194219
In both anterior cingulate cortex (ACC) and dorsolateral prefrontal cortex (DLPFC), study found a reduction of Duo expression and PAK1 phosphorylation in schizophrenia. Cdc42 protein expression was decreased in ACC but not in DLPFC PMID: 22458949
Missense mutations in KALRN may be genetic risk factors for schizophrenia. PMID: 21041834
We found Kalirin-9 expression to be paradoxically increased in schizophrenia PMID: 22120753
KALRN gene variation is not associated with overall ischemic stroke PMID: 21664346
SNX1 and SNX2 interact with Kalirin-7. Overexpression of SNX1 or SNX2 and Kalirin-7 partially redistributes both SNXs to the plasma membrane, and results in RhoG-dependent lamellipodia formation. PMID: 20604901
Studies indicate that Kalirin-7 plays a key role in excitatory synapse formation and function. PMID: 20730383
Two SNPs in the KALRN gene region (rs17286604 and rs11712619)constitute risk factors for ischemic stroke. PMID: 20107840
we have identified multiple transcriptional start sites in rats and humans. These multiple transcriptional start sites result in full-length Kalirin transcripts possessing different 5' ends encoding proteins with differing amino termini PMID: 14742910
Kalirin GEF1 domain induces lamellipodia through activation of Pak, where Guanine nucleotide exchange factor (GEF) activity is not required. PMID: 15950621
Three SNPs from the kalirin (KALRN) gene are associated with early-onset coronary artery disease. PMID: 17357071
ARF6 recruits KALRN to the cell membrane facilitating Rac activation. PMID: 17640372
Our observation is the first to relate kalirin to Alzheimer's disease. Kalirin was consistently under-expressed in Alzheimer's disease hippocampus. PMID: 17851188
Kalirin-7 is an essential component of both shaft and spine excitatory synapses in hippocampal interneurons. PMID: 18199770
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相關(guān)疾?。?/div>
Coronary heart disease 5 (CHDS5)
亞細(xì)胞定位:
Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton.
蛋白家族:
Protein kinase superfamily, CAMK Ser/Thr protein kinase family
組織特異性:
Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen, amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform 4 is expressed in skeletal muscle.