KEGG   PATHWAY: rbb04950
Entry
rbb04950                    Pathway                                
Name
Maturity onset diabetes of the young - Rhinopithecus bieti (black snub-nosed 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
rbb04950  Maturity onset diabetes of the young
rbb04950

Organism
Rhinopithecus bieti (black snub-nosed monkey) [GN:rbb]
Gene
108532594  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
108525192  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
108538120  ONECUT1; hepatocyte nuclear factor 6 isoform X1 [KO:K08026]
108512909  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
108545101  NR5A2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
108530323  NEUROG3; neurogenin-3 [KO:K08028]
108523864  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
108515056  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
108537964  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
108530770  PAX4; paired box protein Pax-4 isoform X1 [KO:K08032]
108526645  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
108517480  RFX6; DNA-binding protein RFX6 [KO:K19521]
108530502  HES1; LOW QUALITY PROTEIN: transcription factor HES-1 [KO:K06054]
108523477  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
108531398  FOXA2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
108525284  MAFA; transcription factor MafA [KO:K07595]
108533384  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
108529643  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
108518549  HNF4G; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
108531086  FOXA3; LOW QUALITY PROTEIN: hepatocyte nuclear factor 3-gamma [KO:K08038]
108526846  PKLR; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
108515004  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
108539226  INS; insulin isoform X1 [KO:K04526]
108539738  IAPP; islet amyloid polypeptide [KO:K08039]
108544024  GCK; glucokinase isoform X1 [KO:K12407] [EC:2.7.1.2]
108521681  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
rbb04910  Insulin signaling pathway
rbb04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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