KEGG   PATHWAY: mpah04950
Entry
mpah04950                   Pathway                                
Name
Maturity onset diabetes of the young - Mus pahari (shrew mouse)
Description
About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY).
We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcription factors: HNF4alpha (MODY1), HNF1alpha (MODY3), PDX1 (MODY4), HNF1beta (MODY5) and NEUROD1 (MODY6). MODY2, which is so far the only subtype not related to a transcription factor, is caused by mutations in the glucokinase gene. Mutations of MODY transcription factor genes lead to abnormal expression of genes involved in pancreatic islet development and metabolism.
Class
Human Diseases; Endocrine and metabolic disease
Pathway map
mpah04950  Maturity onset diabetes of the young
mpah04950

Organism
Mus pahari (shrew mouse) [GN:mpah]
Gene
110336869  Hhex; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
110317316  Mnx1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
110328067  Onecut1; hepatocyte nuclear factor 6 [KO:K08026]
110313077  Pdx1; pancreas/duodenum homeobox protein 1 [KO:K07594]
110322161  Nr5a2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
110326149  Neurog3; neurogenin-3 [KO:K08028]
110318906  Nkx2-2; homeobox protein Nkx-2.2 isoform X1 [KO:K08029]
110330719  Nkx6-1; homeobox protein Nkx-6.1 [KO:K08030]
110319652  Pax6; paired box protein Pax-6 isoform X1 [KO:K08031]
110316452  Pax4; paired box protein Pax-4 isoform X1 [KO:K08032]
110318191  Neurod1; neurogenic differentiation factor 1 [KO:K08033]
110326655  Rfx6; DNA-binding protein RFX6 isoform X1 [KO:K19521]
110329664  Hes1; transcription factor HES-1 [KO:K06054]
110331641  Hnf1b; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
110318797  Foxa2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
110335176  Mafa; transcription factor MafA [KO:K07595]
110317672  Hnf4a; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
110312810  Hnf1a; hepatocyte nuclear factor 1-alpha [KO:K08036]
110320226  Hnf4g; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
110337051  Foxa3; hepatocyte nuclear factor 3-gamma [KO:K08038]
110320360  Pklr; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
110320473  Slc2a2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
110333420  insulin-1 [KO:K04526]
110326410  insulin-2 [KO:K04526]
110317380  Iapp; islet amyloid polypeptide [KO:K08039]
110330598  Gck; glucokinase isoform X1 [KO:K12407] [EC:2.7.1.2]
110313210  Bhlha15; class A basic helix-loop-helix protein 15 [KO:K08040]
Reference
PMID:15298336
  Authors
Servitja JM, Ferrer J.
  Title
Transcriptional networks controlling pancreatic development and beta cell function.
  Journal
Diabetologia 47:597-613 (2004)
DOI:10.1007/s00125-004-1368-9
Reference
PMID:15604203
  Authors
Habener JF, Kemp DM, Thomas MK.
  Title
Minireview: transcriptional regulation in pancreatic development.
  Journal
Endocrinology 146:1025-34 (2005)
DOI:10.1210/en.2004-1576
Reference
PMID:15028942
  Authors
Ashizawa S, Brunicardi FC, Wang XP.
  Title
PDX-1 and the pancreas.
  Journal
Pancreas 28:109-20 (2004)
DOI:10.1097/00006676-200403000-00001
Reference
PMID:14614204
  Authors
Yamagata K.
  Title
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY).
  Journal
Endocr J 50:491-9 (2003)
DOI:10.1507/endocrj.50.491
Related
pathway
mpah04910  Insulin signaling pathway
mpah04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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