KEGG   PATHWAY: mna04950
Entry
mna04950                    Pathway                                
Name
Maturity onset diabetes of the young - Miniopterus natalensis (Natal long-fingered bat)
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
mna04950  Maturity onset diabetes of the young
mna04950

Organism
Miniopterus natalensis (Natal long-fingered bat) [GN:mna]
Gene
107543252  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
107524912  MNX1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
107546555  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
107534356  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
107535998  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
107526077  NEUROG3; neurogenin-3 [KO:K08028]
107536307  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
107531928  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
107537333  PAX4; paired box protein Pax-4 [KO:K08032]
107524057  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
107526308  RFX6; DNA-binding protein RFX6 [KO:K19521]
107527413  HES1; transcription factor HES-1 [KO:K06054]
107535310  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
107542739  MAFA; transcription factor MafA [KO:K07595]
107542098  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
107528491  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
107539582  HNF4G; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
107536773  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
107543786  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
107529525  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
107542054  GCK; glucokinase [KO:K12407] [EC:2.7.1.2]
107533902  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
mna04910  Insulin signaling pathway
mna04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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