KEGG   PATHWAY: btax04950
Entry
btax04950                   Pathway                                
Name
Maturity onset diabetes of the young - Budorcas taxicolor (takin)
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
btax04950  Maturity onset diabetes of the young
btax04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Budorcas taxicolor (takin) [GN:btax]
Gene
128043621  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
128043798  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
128044425  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
128046290  GCK; hexokinase-4 [KO:K12407] [EC:2.7.1.2]
128046308  PAX4; LOW QUALITY PROTEIN: paired box protein Pax-4 [KO:K08032]
128046848  HES1; transcription factor HES-1 [KO:K06054]
128046996  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
128049020  NEUROG3; neurogenin-3 [KO:K08028]
128049039  IAPP; islet amyloid polypeptide [KO:K08039]
128049936  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
128050075  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
128053408  RFX6; DNA-binding protein RFX6 [KO:K19521]
128054516  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
128057849  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
128058426  HNF4A; hepatocyte nuclear factor 4-alpha [KO:K07292]
128058712  FOXA2; hepatocyte nuclear factor 3-beta [KO:K08035]
128058792  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
128059381  HNF4G; hepatocyte nuclear factor 4-gamma [KO:K08037]
128059453  MAFA; transcription factor MafA [KO:K07595]
128060318  PAX6; LOW QUALITY PROTEIN: paired box protein Pax-6 [KO:K08031]
128061654  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
128062372  HNF1A; hepatocyte nuclear factor 1-alpha [KO:K08036]
128064157  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
128064792  HNF1B; hepatocyte nuclear factor 1-beta [KO:K08034]
128068074  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
128069208  INS; insulin [KO:K04526]
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
btax04910  Insulin signaling pathway
btax04930  Type II diabetes mellitus
KO pathway
ko04950   

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