KEGG   PATHWAY: mcc04950
Entry
mcc04950                    Pathway                                
Name
Maturity onset diabetes of the young - Macaca mulatta (rhesus monkey)
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
mcc04950  Maturity onset diabetes of the young
mcc04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Macaca mulatta (rhesus monkey) [GN:mcc]
Gene
106997569  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
106999985  MAFA; transcription factor MafA [KO:K07595]
107001057  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
114670806  IAPP; islet amyloid polypeptide [KO:K08039]
695538  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [KO:K07593]
695746  PAX6; paired box protein Pax-6 [KO:K08031]
696311  ONECUT1; hepatocyte nuclear factor 6 isoform X1 [KO:K08026]
697750  HNF4G; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
698351  PAX4; paired box protein Pax-4 isoform X1 [KO:K08032]
699012  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
699728  GCK; glucokinase isoform X1 [KO:K12407] [EC:2.7.1.2]
701424  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
701771  FOXA2; hepatocyte nuclear factor 3-beta isoform X2 [KO:K08035]
704534  INS; insulin [KO:K04526]
704954  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
706844  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
707140  HES1; transcription factor HES-1 [KO:K06054]
709735  NR5A2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
710936  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
711583  NEUROG3; neurogenin-3 [KO:K08028]
714540  HNF1B; hepatocyte nuclear factor 1-beta [KO:K08034]
715469  RFX6; DNA-binding protein RFX6 [KO:K19521]
715663  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
717972  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
719152  PKLR; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
722833  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
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
mcc04910  Insulin signaling pathway
mcc04930  Type II diabetes mellitus
KO pathway
ko04950   

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