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TCF7L2
MIM.602228 10q25.3
Wednesday 7 November 2007
The TCL7L2 gene product is a high mobility group box-containing transcription factor implicated in blood glucose homeostasis. TCL7L2 acts through regulation of proglucagon (MIM.138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.
TCF-4 codes for a transcription factor that is a crucial member of the adenomatous polyposis coil (APC)/beta-catenin/T-cell factor (TCF).
The TCF4 (TCL7L2) gene product is a high mobility group box-containing transcription factor (see HMGs) implicated in blood glucose homeostasis.
TCF4 acts through regulation of proglucagon (MIM.138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.
Pathology
variants in susceptibility to type II diabetes (MIM.125853)
References
Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin MR, McCarthy MI, Davey Smith G, Hattersley AT, Frayling TM. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet. 2007 Jun;80(6):1150-61. PMID: 17503332
Duggirala, R.; Blangero, J.; Almasy, L.; Dyer, T. D.; Williams, K. L.; Leach, R. J.; O’Connell, P.; Stern, M. P. : Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am. J. Hum. Genet. 64: 1127-1140, 1999. PubMed ID : 10090898
Duval, A.; Gayet, J.; Zhou, X.-P.; Iacopetta, B.; Thomas, G.; Hamelin, R. : Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability. Cancer Res. 59: 4213-4215, 1999. PubMed ID : 10485457