HNF1B

HNF1B

A gene on 17q12 that encodes a transcription factor that binds an inverted palindromic sequence of DNA.

Molecular pathology
Defects in HNF1B are a cause of maturity-onset diabetes of the young type 5 (MODY5, or renal cysts and diabetes syndrome) and contribute to the development of type-2 diabetes and prostate cancer hereditary type 11.
References in periodicals archive ?
Endometriod cancer and clear cell ovarian cancer are both associated with endometriosis, but differ in the expression on the gene HNF1B.
MODY MASTR allows amplification and sequencing of the following genes: GCK, HNF1A, HNF4A, HNF1B, INS, ABCC8, and KCNJ11.
Other SNPs that reached genome-wide significance were rs401681 and rs2736098 near the TERT (telomerase reverse transcriptase) gene on chromosome 5, rs10788160 near the FGFR2 (fibroblast growth factor receptor 2) gene, rs10993994 near the MSMB (microseminoprotein, beta-) gene (as in prior studies) on chromosome 10, rs11067228 near the TBX3 (T-box 3) gene on chromosome 12, and rs4430796 at the HNF1B (HNF1 homeobox B) gene on chromosome 17.
1 HNF1B 17q12 NeuroD1 2q32 Neonatal diabetes KCNJ11 11p15.
Mutations in the HNF1B gene cause MODY5, which in affected individuals is associated with early-onset diabetes and also urogenital and renal pathology.