KEGG   PATHWAY: nvs04950
Entry
nvs04950                    Pathway                                
Name
Maturity onset diabetes of the young - Neogale vison (American mink)
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
nvs04950  Maturity onset diabetes of the young
nvs04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Neogale vison (American mink) [GN:nvs]
Gene
122890496  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
122891854  [KO:K08039]
122893835  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
122895594  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
122898910  NEUROG3; neurogenin-3 [KO:K08028]
122899346  RFX6; DNA-binding protein RFX6 [KO:K19521]
122900930  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
122901854  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
122903342  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
122904189  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
122904510  HNF4G; hepatocyte nuclear factor 4-gamma [KO:K08037]
122905382  GCK; hexokinase-4 [KO:K12407] [EC:2.7.1.2]
122905441  PAX4; paired box protein Pax-4 [KO:K08032]
122905495  MAFA; transcription factor MafA [KO:K07595]
122906472  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
122907820  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
122908694  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [KO:K07593]
122908812  HES1; transcription factor HES-1 [KO:K06054]
122912817  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
122913899  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
122914590  INS; insulin [KO:K04526]
122915648  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
122915652  FOXA2; hepatocyte nuclear factor 3-beta [KO:K08035]
122916055  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
122918258  PKLR; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
122918764  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
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
nvs04910  Insulin signaling pathway
nvs04930  Type II diabetes mellitus
KO pathway
ko04950   

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