Currently, information relating HNF1
and HNF4[alpha] signaling with lung cell function is limited.
alpha inactivation promotes lipogenesis in human hepatic adenoma independently of SREBP-1 and carbohydrate-response element-binding protein (ChREBP) activation.
This entity is linked to heterozygous mutations in the TCF2 gene, encoding for HNF1 p.
Most recently, insertional mutagenesis in the homeobox gene vhnf1 in zebrafish (equivalent to TCF2-encoded HNF1 b in humans) demonstrated such developmental regulation in an organspecific manner, which involves wt1 and pax2 in the glomerulus and tubules, and more ubiquitous regulators such as shh and pdx1 in the gut.
245) The link to UMOD and PKHD1 is supported by evidence that HNF1 b acts as a tumor suppressor in chromophobe renal cell carcinogenesis.
More than 90% of all cases of MODY with a known cause are due to mutations in one of four genes: GCK, hepatocyte nuclear factor homeobox 1-alpha (HNF1A), HNF1 homeobox IB, or HNF4 alpha.
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.