KEGG   PATHWAY: rno04950
Entry
rno04950                    Pathway                                
Name
Maturity onset diabetes of the young - Rattus norvegicus (rat)
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
rno04950  Maturity onset diabetes of the young
rno04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Rattus norvegicus (rat) [GN:rno]
Gene
24385  Gck; hexokinase-4 isoform 2 [KO:K12407] [EC:2.7.1.2]
24476  Iapp; islet amyloid polypeptide precursor [KO:K08039]
24505  Ins1; insulin-1 preproprotein [KO:K04526]
24506  Ins2; insulin-2 preproprotein [KO:K04526]
24651  Pklr; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
24817  Hnf1a; hepatocyte nuclear factor 1-alpha [KO:K08036]
25099  Foxa2; hepatocyte nuclear factor 3-beta [KO:K08035]
25100  Foxa3; hepatocyte nuclear factor 3-gamma [KO:K08038]
25231  Onecut1; hepatocyte nuclear factor 6 [KO:K08026]
25334  Bhlha15; class A basic helix-loop-helix protein 15 [KO:K08040]
25351  Slc2a2; solute carrier family 2, facilitated glucose transporter member 2 [KO:K07593]
25509  Pax6; paired box protein Pax-6 [KO:K08031]
25640  Hnf1b; hepatocyte nuclear factor 1-beta isoform 2 [KO:K08034]
25735  Hnf4a; hepatocyte nuclear factor 4-alpha isoform 1 [KO:K07292]
294395  Rfx6; DNA-binding protein RFX6 [KO:K19521]
29458  Neurod1; neurogenic differentiation factor 1 [KO:K08033]
29535  Pdx1; pancreas/duodenum homeobox protein 1 [KO:K07594]
29577  Hes1; transcription factor HES-1 [KO:K06054]
365744  Hnf4g; hepatocyte nuclear factor 4-gamma [KO:K08037]
366214  Nkx2-2; homeobox protein Nkx-2.2 [KO:K08029]
366949  Mafa; transcription factor MafA [KO:K07595]
60329  Neurog3; neurogenin-3 [KO:K08028]
60349  Nr5a2; nuclear receptor subfamily 5 group A member 2 [KO:K08027]
65193  Nkx6-1; homeobox protein Nkx-6.1 [KO:K08030]
682076  Mnx1; motor neuron and pancreas homeobox protein 1 [KO:K08025]
79237  Hhex; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
83630  Pax4; paired box protein Pax-4 [KO:K08032]
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
rno04910  Insulin signaling pathway
rno04930  Type II diabetes mellitus
KO pathway
ko04950   

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