Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
CDKAL1
Introduction
CDK5 regulatory subunit associated protein 1-like 1 is a protein that in humans is encoded by the CDKAL1 gene.[1]
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 susceptibility to type 2 diabetes`. [provided by RefSeq, May 2010].[1]
References
References
- ↑ 1.0 1.1 “Entrez Gene: CDK5 regulatory subunit associated protein 1-like 1”. Retrieved 2012-03-12.
External links
External links
- Human CDKAL1 genome location and CDKAL1 gene details page in the UCSC Genome Browser.
Further reading
Further reading
- Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, et al. (Jun 2007). “A variant in CDKAL1 influences insulin response and risk of type 2 diabetes”. Nature Genetics. 39 (6): 770–5. doi:10.1038/ng2043. PMID 17460697.
- Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, et al. (Jun 2007). “Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels”. Science. 316 (5829): 1331–6. doi:10.1126/science.1142358. PMID 17463246.
- Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, et al. (Jun 2007). “A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants”. Science. 316 (5829): 1341–5. doi:10.1126/science.1142382. PMC 3214617. PMID 17463248.
- Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, et al. (Jun 2007). Wellcome Trust Case Control Consortium (WTCCC). “Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes”. Science. 316 (5829): 1336–41. doi:10.1126/science.1142364. PMC 3772310. PMID 17463249.
- “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls”. Nature. 447 (7145): 661–78. Jun 2007. doi:10.1038/nature05911. PMC 2719288. PMID 17554300.
- Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, Frayling TM, Walker M (Dec 2007). “Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function”. Diabetes. 56 (12): 3101–4. doi:10.2337/db07-0634. PMID 17804762.
- Horikoshi M, Hara K, Ito C, Shojima N, Nagai R, Ueki K, Froguel P, Kadowaki T (Dec 2007). “Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population”. Diabetologia. 50 (12): 2461–6. doi:10.1007/s00125-007-0827-5. PMID 17928989.
- Wolf N, Quaranta M, Prescott NJ, Allen M, Smith R, Burden AD, Worthington J, Griffiths CE, Mathew CG, Barker JN, Capon F, Trembath RC (Feb 2008). “Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease”. Journal of Medical Genetics. 45 (2): 114–6. doi:10.1136/jmg.2007.053595. PMID 17993580.
- Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, Kawamori R, Nakamura Y, Maeda S (Mar 2008). “Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population”. Diabetes. 57 (3): 791–5. doi:10.2337/db07-0979. PMID 18162508.
- Cauchi S, Proença C, Choquet H, Gaget S, De Graeve F, Marre M, Balkau B, Tichet J, Meyre D, Vaxillaire M, Froguel P (Mar 2008). “Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study”. Journal of Molecular Medicine. 86 (3): 341–8. doi:10.1007/s00109-007-0295-x. PMID 18210030.