KEGG   PATHWAY: dro04950
Entry
dro04950                    Pathway                                
Name
Maturity onset diabetes of the young - Desmodus rotundus (common vampire bat)
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
dro04950  Maturity onset diabetes of the young
dro04950

Organism
Desmodus rotundus (common vampire bat) [GN:dro]
Gene
112307372  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
112311998  ONECUT1; LOW QUALITY PROTEIN: hepatocyte nuclear factor 6 [KO:K08026]
112296229  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
112318887  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
112305444  NEUROG3; neurogenin-3 [KO:K08028]
112304228  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
112317724  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
112303250  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
112299825  PAX4; paired box protein Pax-4 [KO:K08032]
112305827  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
112297342  RFX6; DNA-binding protein RFX6 [KO:K19521]
112301010  HES1; LOW QUALITY PROTEIN: transcription factor HES-1 [KO:K06054]
112316318  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
112304240  FOXA2; hepatocyte nuclear factor 3-beta [KO:K08035]
112315398  MAFA; transcription factor MafA [KO:K07595]
112303752  HNF4A; hepatocyte nuclear factor 4-alpha [KO:K07292]
112310685  hepatocyte nuclear factor 1-alpha [KO:K08036]
112320838  HNF4G; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
112312960  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
112315575  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
112304870  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
112306978  GCK; glucokinase [KO:K12407] [EC:2.7.1.2]
112319515  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
dro04910  Insulin signaling pathway
dro04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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