KEGG   PATHWAY: mmu04950
Entry
mmu04950                    Pathway                                

Name
Maturity onset diabetes of the young - Mus musculus (mouse)
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
mmu04950  Maturity onset diabetes of the young
mmu04950

Organism
Mus musculus (mouse) [GN:mmu]
Gene
15242  Hhex; hematopoietically expressed homeobox [KO:K08024]
15285  Mnx1; motor neuron and pancreas homeobox 1 [KO:K08025]
15379  Onecut1; one cut domain, family member 1 [KO:K08026]
18609  Pdx1; pancreatic and duodenal homeobox 1 [KO:K07594]
26424  Nr5a2; nuclear receptor subfamily 5, group A, member 2 [KO:K08027]
11925  Neurog3; neurogenin 3 [KO:K08028]
18088  Nkx2-2; NK2 homeobox 2 [KO:K08029]
18096  Nkx6-1; NK6 homeobox 1 [KO:K08030]
18508  Pax6; paired box 6 [KO:K08031]
18506  Pax4; paired box 4 [KO:K08032]
18012  Neurod1; neurogenic differentiation 1 [KO:K08033]
320995  Rfx6; regulatory factor X, 6 [KO:K19521]
15205  Hes1; hes family bHLH transcription factor 1 [KO:K06054]
21410  Hnf1b; HNF1 homeobox B [KO:K08034]
15376  Foxa2; forkhead box A2 [KO:K08035]
378435  Mafa; v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A (avian) [KO:K07595]
15378  Hnf4a; hepatic nuclear factor 4, alpha [KO:K07292]
21405  Hnf1a; HNF1 homeobox A [KO:K08036]
30942  Hnf4g; hepatocyte nuclear factor 4, gamma [KO:K08037]
15377  Foxa3; forkhead box A3 [KO:K08038]
18770  Pklr; pyruvate kinase liver and red blood cell [KO:K12406] [EC:2.7.1.40]
20526  Slc2a2; solute carrier family 2 (facilitated glucose transporter), member 2 [KO:K07593]
16334  Ins2; insulin II [KO:K04526]
16333  Ins1; insulin I [KO:K04526]
15874  Iapp; islet amyloid polypeptide [KO:K08039]
103988  Gck; glucokinase [KO:K12407] [EC:2.7.1.2]
17341  Bhlha15; basic helix-loop-helix family, member a15 [KO:K08040]
Reference
  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
  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
  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
  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
mmu04910  Insulin signaling pathway
mmu04930  Type II diabetes mellitus
KO pathway
ko04950   

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