KEGG   PATHWAY: hsa04950
Entry
hsa04950                    Pathway                                
Name
Maturity onset diabetes of the young - Homo sapiens (human)
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
hsa04950  Maturity onset diabetes of the young
hsa04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Homo sapiens (human) [GN:hsa]
Gene
3087  HHEX; hematopoietically expressed homeobox [KO:K08024]
3110  MNX1; motor neuron and pancreas homeobox 1 [KO:K08025]
3175  ONECUT1; one cut homeobox 1 [KO:K08026]
3651  PDX1; pancreatic and duodenal homeobox 1 [KO:K07594]
2494  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
50674  NEUROG3; neurogenin 3 [KO:K08028]
4821  NKX2-2; NK2 homeobox 2 [KO:K08029]
4825  NKX6-1; NK6 homeobox 1 [KO:K08030]
5080  PAX6; paired box 6 [KO:K08031]
5078  PAX4; paired box 4 [KO:K08032]
4760  NEUROD1; neuronal differentiation 1 [KO:K08033]
222546  RFX6; regulatory factor X6 [KO:K19521]
3280  HES1; hes family bHLH transcription factor 1 [KO:K06054]
6928  HNF1B; HNF1 homeobox B [KO:K08034]
3170  FOXA2; forkhead box A2 [KO:K08035]
389692  MAFA; MAF bZIP transcription factor A [KO:K07595]
3172  HNF4A; hepatocyte nuclear factor 4 alpha [KO:K07292]
6927  HNF1A; HNF1 homeobox A [KO:K08036]
3174  HNF4G; hepatocyte nuclear factor 4 gamma [KO:K08037]
3171  FOXA3; forkhead box A3 [KO:K08038]
5313  PKLR; pyruvate kinase L/R [KO:K12406] [EC:2.7.1.40]
6514  SLC2A2; solute carrier family 2 member 2 [KO:K07593]
3630  INS; insulin [KO:K04526]
3375  IAPP; islet amyloid polypeptide [KO:K08039]
2645  GCK; glucokinase [KO:K12407] [EC:2.7.1.2]
168620  BHLHA15; basic helix-loop-helix family member a15 [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
hsa04910  Insulin signaling pathway
hsa04930  Type II diabetes mellitus
KO pathway
ko04950   

  All links  
Disease (1)   
   KEGG DISEASE (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG GENES (26)   
All databases (28)   

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