HNF1Hepatocyte Nuclear Factor 1
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The most significant enrichment was for HNF1, which has a known association with inflammatoiy pathway signaling underlying coronary heart disease (Armendariz and Krauss 2009).
Currently, information relating HNF1 and HNF4[alpha] signaling with lung cell function is limited.
Perez et al., "HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina," Diabetes Research and Clinical Practice, vol.
[4] Human genes: PHACTR1, phosphatase and actin regulator 1; HNF1A, HNF1 homeobox A; PCSK9, proprotein convertase subtilisin/kexin type 9; SORT1, sortilin 1; SLC22A3, solute carrier family 22 (extraneuronal monoamine transporter), member 3; LPAL2, lipoprotein, Lp(a)-like 2, pseudogene; LPA, lipoprotein, Lp(a); MRAS, muscle RAS oncogene homolog; KCNE2, potassium voltage-gated channel, Isk-related family, member 2.
[3] Human genes: KLK3, kallikrein-related peptidase 3; TERT, telomerase reverse transcriptase; FGFR2, fibroblast growth factor receptor 2; MSMB, microsemino- protein, beta-; TBX3, T-box 3; HNF1B, HNF1 homeobox B.
Although a number of studies have reported association of functional or positional candidates, only 6 genes have been consistently associated with T2D: peroxisome proliferator-activated receptor gamma (PPARG), insulin receptor substrate 1 (IRS1), potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), Wolfram syndrome 1 (wolframin) (WFS1), HNF1 homeobox A (HNF1A), and HNF1 homeobox B (HNF1B) (Table 1).
This polymorphic RsaI site is located within the binding site (cis-responsive element) for the liver-specific transcription factor HNF1 (LF-B1).
It encodes a transcription factor HNF1, which, in the liver, is implicated in hepatocyte differentiation and is required for expression of certain liver-specific genes, including albumin, [beta]-fibrinogen, and [[alpha].sub.1]-antitrypsin.
HNF1 alpha inactivation promotes lipogenesis in human hepatic adenoma independently of SREBP-1 and carbohydrate-response element-binding protein (ChREBP) activation.
Mutations in BHD and TP53 genes, but not in HNF1 beta gene, in a large series of sporadic chromophobe renal cell carcinoma.
Although several reference laboratories offer TCF2 (HNF1 P)testing (typically listed as RCAD [renal cysts and diabetes]), routine diagnostic testing is currently not available.
This entity is linked to heterozygous mutations in the TCF2 gene, encoding for HNF1 p.32, (108-111) The syndrome is also known as familial hypoplastic GCKD (MIM 137920), renal cysts and diabetes syndrome (RCAD), or familial hypoplastic GCK.