KEGG   PATHWAY: lve04950
Entry
lve04950                    Pathway                                
Name
Maturity onset diabetes of the young - Lipotes vexillifer (Yangtze River dolphin)
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
lve04950  Maturity onset diabetes of the young
lve04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Lipotes vexillifer (Yangtze River dolphin) [GN:lve]
Gene
103070636  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
103070651  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
103071431  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
103073120  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
103073667  FOXA2; hepatocyte nuclear factor 3-beta [KO:K08035]
103074175  GCK; glucokinase isoform X1 [KO:K12407] [EC:2.7.1.2]
103075626  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
103075669  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
103075922  HNF4G; hepatocyte nuclear factor 4-gamma [KO:K08037]
103078011  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
103078159  NKX6-1; homeobox protein Nkx-6.1-like [KO:K08030]
103079775  HES1; transcription factor HES-1 [KO:K06054]
103081030  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
103082241  MNX1; LOW QUALITY PROTEIN: motor neuron and pancreas homeobox 1 [KO:K08025]
103084547  HNF1A; hepatocyte nuclear factor 1-alpha [KO:K08036]
103084678  NEUROG3; neurogenin-3 [KO:K08028]
103084784  RFX6; DNA-binding protein RFX6 [KO:K19521]
103085742  INS; insulin [KO:K04526]
103086850  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [KO:K07593]
103086954  PAX4; LOW QUALITY PROTEIN: paired box 4 [KO:K08032]
103087773  MAFA; transcription factor MafA [KO:K07595]
103089000  NR5A2; LOW QUALITY PROTEIN: nuclear receptor subfamily 5 group A member 2 [KO:K08027]
103089176  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
103089649  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
103090061  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
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
lve04910  Insulin signaling pathway
lve04930  Type II diabetes mellitus
KO pathway
ko04950   

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