KEGG   PATHWAY: ccan04950
Entry
ccan04950                   Pathway                                
Name
Maturity onset diabetes of the young - Castor canadensis (American beaver)
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
ccan04950  Maturity onset diabetes of the young
ccan04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Castor canadensis (American beaver) [GN:ccan]
Gene
109674534  Rfx6; DNA-binding protein RFX6 isoform X1 [KO:K19521]
109675908  Hnf4g; hepatocyte nuclear factor 4-gamma [KO:K08037]
109676484  Foxa2; hepatocyte nuclear factor 3-beta [KO:K08035]
109682204  Iapp; islet amyloid polypeptide [KO:K08039]
109682261  Slc2a2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
109684687  Nkx2-2; LOW QUALITY PROTEIN: homeobox protein Nkx-2.2 [KO:K08029]
109684953  Neurog3; neurogenin-3 [KO:K08028]
109685901  Gck; glucokinase [KO:K12407] [EC:2.7.1.2]
109686334  Pax6; paired box protein Pax-6 isoform X1 [KO:K08031]
109687970  Pklr; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
109689794  [KO:K04526]
109690262  Foxa3; hepatocyte nuclear factor 3-gamma [KO:K08038]
109690720  Hhex; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
109690814  Mafa; transcription factor MafA [KO:K07595]
109692498  Hnf4a; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
109692928  Bhlha15; class A basic helix-loop-helix protein 15 [KO:K08040]
109694392  Hnf1b; hepatocyte nuclear factor 1-beta [KO:K08034]
109694702  Pdx1; pancreas/duodenum homeobox protein 1 [KO:K07594]
109695944  Onecut1; hepatocyte nuclear factor 6 [KO:K08026]
109696154  Hnf1a; LOW QUALITY PROTEIN: hepatocyte nuclear factor 1-alpha [KO:K08036]
109697826  Hes1; transcription factor HES-1 [KO:K06054]
109698818  Neurod1; neurogenic differentiation factor 1 [KO:K08033]
109698827  Mnx1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
109701341  Nr5a2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
109701498  Pax4; paired box protein Pax-4 [KO:K08032]
109702391  Nkx6-1; homeobox protein Nkx-6.1 [KO:K08030]
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
ccan04910  Insulin signaling pathway
ccan04930  Type II diabetes mellitus
KO pathway
ko04950   

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