KEGG   PATHWAY: hmh04950
Entry
hmh04950                    Pathway                                
Name
Maturity onset diabetes of the young - Hylobates moloch (silvery gibbon)
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
hmh04950  Maturity onset diabetes of the young
hmh04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Hylobates moloch (silvery gibbon) [GN:hmh]
Gene
116457357  NR5A2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
116458879  NEUROG3; neurogenin-3 [KO:K08028]
116460837  HNF4A; hepatocyte nuclear factor 4-alpha isoform X5 [KO:K07292]
116461007  FOXA2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
116461093  NKX2-2; homeobox protein Nkx-2.2 isoform X1 [KO:K08029]
116466391  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
116469318  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
116472763  IAPP; islet amyloid polypeptide [KO:K08039]
116474118  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
116474944  NKX6-1; homeobox protein Nkx-6.1 isoform X2 [KO:K08030]
116475849  RFX6; DNA-binding protein RFX6 [KO:K19521]
116476388  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
116477801  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
116478679  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
116479977  HES1; transcription factor HES-1 [KO:K06054]
116480104  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
116482104  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
116483482  FOXA3; hepatocyte nuclear factor 3-gamma isoform X1 [KO:K08038]
116809729  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
116810584  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
116810880  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
116812491  GCK; hexokinase-4 isoform X1 [KO:K12407] [EC:2.7.1.2]
116812657  HNF4G; hepatocyte nuclear factor 4-gamma [KO:K08037]
116812735  MAFA; transcription factor MafA [KO:K07595]
116814316  PAX4; paired box protein Pax-4 isoform X1 [KO:K08032]
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
hmh04910  Insulin signaling pathway
hmh04930  Type II diabetes mellitus
KO pathway
ko04950   

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