KEGG   PATHWAY: ko04950
Entry
ko04950                     Pathway                                
Name
Maturity onset diabetes of the young
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
ko04950  Maturity onset diabetes of the young
ko04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Orthology
K08024  homeobox protein HEX
K08025  homeobox protein HB9
K08026  one cut domain, family member 1 (hepatocyte nuclear factor 6)
K07594  insulin promoter factor 1
K08027  nuclear receptor subfamily 5 group A member 2
K08028  neurogenin 3
K08029  homeobox protein Nkx-2.2
K08030  homeobox protein Nkx-6.1
K08031  paired box protein 6
K08032  paired box protein 4
K08033  neurogenic differentiation factor 1
K19521  regulatory factor X 6
K06054  hairy and enhancer of split 1
K08034  transcription factor 2, hepatocyte nuclear factor 1-beta
K08035  forkhead box protein A2, hepatocyte nuclear factor 3-beta
K07595  transcription factor MAFA
K07292  hepatocyte nuclear factor 4-alpha
K08036  transcription factor 1, hepatocyte nuclear factor 1-alpha
K08037  hepatocyte nuclear factor 4-gamma
K08038  forkhead box protein A3, hepatocyte nuclear factor 3-gamma
K12406  pyruvate kinase isozymes R/L [EC:2.7.1.40]
K07593  MFS transporter, SP family, solute carrier family 2 (facilitated glucose transporter), member 2
K04526  insulin
K08039  islet amyloid polypeptide
K12407  glucokinase [EC:2.7.1.2]
K08040  class B basic helix-loop-helix protein 8
Reference
  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
  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
  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
  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
ko04910  Insulin signaling pathway
ko04930  Type II diabetes mellitus

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