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The protein encoded by CDKAL1 is a member of the methylthiotransferase family.
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Human Polyclonal CDKAL1 Primary Antibody für ELISA, WB - ABIN570672
Brambillasca, Altkrueger, Colombo, Friederich, Eickelmann, Mark, Borgese, Solimena: CDK5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is a tail-anchored protein in the endoplasmic reticulum (ER) of insulinoma cells. in The Journal of biological chemistry 2012
Dog (Canine) Polyclonal CDKAL1 Primary Antibody für ELISA - ABIN451799
Zeggini, Weedon, Lindgren, Frayling, Elliott, Lango, Timpson, Perry, Rayner, Freathy, Barrett, Shields, Morris, Ellard, Groves, Harries, Marchini, Owen, Knight, Cardon, Walker, Hitman, Morris, Doney et al.: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. ... in Science (New York, N.Y.) 2007
More CDKAL1 variants are required to validate the association between CDKAL1 and gestational glycemic traits.
Forced MT1E (zeige MT1E Antikörper) expression rescues both hypersensitivity of CDKAL1 mutant cells to glycolipotoxicity and pancreatic beta-cell dysfunction in vitro and in vivo.
CDKAL1 gene is associated with development of type 2 diabetes. For the HHEX (zeige HHEX Antikörper)/IDE (zeige IDE Antikörper) locus, such an association is absent.
family-based GWAS of imputed SNPs revealed novel genomic variants in (or near) PTPRG (zeige PTPRG Antikörper), OSBPL6 (zeige OSBPL6 Antikörper), and PDCL3 (zeige PDCL3 Antikörper) that influence risk for Alzheimer's Disease. rs7609954 in the gene PTPRG (zeige PTPRG Antikörper), rs1347297 in the gene OSBPL6 (zeige OSBPL6 Antikörper), and rs1513625 near PDCL3 (zeige PDCL3 Antikörper). In addition, rs72953347 in OSBPL6 (zeige OSBPL6 Antikörper) and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value=4.76 x 10-7; rs62400067, P-value=3.54 x 10-7).
The multivariate logistic regression analysis with reference to both alleles and genotypes of CDKAL1 SNPs showed significant association, suggesting an important role for this gene in the T2DM pathophysiology. INTERPRETATION & CONCLUSIONS: A significant association was seen of all the three SNPs of CDKAL1 and CDKN2A/B genes with T2DM but none of the two SNPs of HHEX (zeige HHEX Antikörper).
Study provides evidence that SNPs of JMJD1C (zeige JMJD1C Antikörper) and KCNQ1 (zeige KCNQ1 Antikörper) are prospectively associated with the risk of type 2 diabetes (T2D) in Korean population. Additionally, CDKAL1 may not be associated with T2D onset over the age of 40.
Our results suggest that rs6908425 in CDKAL1 is associated with the risk of developing SAPHO in Han Chinese populations. People who carry the risk allele T of rs6908425 might be more prone to developing SAPHO syndrome.
We investigated the association between 8 single-nucleotide polymorphisms (SNPs) at 3 genetic loci (CDKAL1, CDKN2A/2B and FTO (zeige FTO Antikörper)) with type 2 diabetes (T2D) in a Uyghur population
our data suggested that CDKAL1 gene variants have a significant effect on the response to anti-TNF (zeige TNF Antikörper) therapies among Psoriasis patients
Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5 (zeige ADCY5 Antikörper), ADRA2A (zeige ADRA2A Antikörper), CDKAL1, CDKN2A/B, GRB10 (zeige GRB10 Antikörper), and TCF7L2 (zeige TCF7L2 Antikörper)
CDKAL1 may affect such compensatory mechanisms regulating glucose homeostasis through interaction with diet
Knockout mice with pancreatic beta-cell-specific lack of cdkal1 show pancreatic islet hypertrophy and impaired blood glucose control.
Data show that Cdkal1 is a mammalian methylthiotransferase that biosynthesizes 2-methylthio-N6-threonylcarbamoyladenosine (ms2t6A) in tRNA(Lys (zeige LYZ Antikörper))(UUU) and that it is required for the accurate translation of AAA (zeige AAAS Antikörper) and AAG (zeige C16orf35 Antikörper) codons.
CDKAL1 controls first-phase insulin (zeige INS Antikörper) exocytosis in beta cells by facilitating ATP generation, K(ATP) channel responsiveness and the subsequent activity of Ca(2 (zeige CA2 Antikörper)+) channels through pathways other than CDK5 (zeige CDK5 Antikörper)-mediated regulation
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes.
CDK5 regulatory subunit-associated protein 1-like 1
, tRNA-t(6)A37 methylthiotransferase
, threonylcarbamoyladenosine tRNA methylthiotransferase
, CDK5 regulatory subunit associated protein 1-like 1