KEGG   PATHWAY: ecb04950
Entry
ecb04950                    Pathway                                
Name
Maturity onset diabetes of the young - Equus caballus (horse)
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
ecb04950  Maturity onset diabetes of the young
ecb04950

Organism
Equus caballus (horse) [GN:ecb]
Gene
100071280  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
100067012  MNX1; LOW QUALITY PROTEIN: motor neuron and pancreas homeobox protein 1 [KO:K08025]
100069457  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
100051336  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
100009700  NR5A2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
100147114  NEUROG3; neurogenin-3 [KO:K08028]
100050029  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
100062057  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
100146390  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
100071708  PAX4; LOW QUALITY PROTEIN: paired box protein Pax-4 [KO:K08032]
100067943  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
100072753  RFX6; DNA-binding protein RFX6 [KO:K19521]
100069015  HES1; transcription factor HES-1 [KO:K06054]
100057769  HNF1B; hepatocyte nuclear factor 1-beta isoform X2 [KO:K08034]
100147413  FOXA2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
111775053  MAFA; transcription factor MafA [KO:K07595]
100056007  HNF4A; hepatocyte nuclear factor 4-alpha isoform X2 [KO:K07292]
100049993  HNF1A; hepatocyte nuclear factor 1-alpha [KO:K08036]
100050783  HNF4G; hepatocyte nuclear factor 4-gamma isoform X2 [KO:K08037]
100070957  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
100063608  PKLR; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
100033974  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
111776000  INS; insulin [KO:K04526]
100629466  IAPP; islet amyloid polypeptide [KO:K08039]
100051836  glucokinase [KO:K12407] [EC:2.7.1.2]
100062732  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
ecb04910  Insulin signaling pathway
ecb04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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