KEGG   PATHWAY: pvp04950
Entry
pvp04950                    Pathway                                
Name
Maturity onset diabetes of the young - Pteropus vampyrus (large flying fox)
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
pvp04950  Maturity onset diabetes of the young
pvp04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Organism
Pteropus vampyrus (large flying fox) [GN:pvp]
Gene
105288762  ONECUT1; hepatocyte nuclear factor 6 isoform X1 [KO:K08026]
105289290  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
105289589  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
105289787  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
105290233  PAX4; paired box protein Pax-4 [KO:K08032]
105292100  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
105293077  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
105293704  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
105294584  BHLHA15; class A basic helix-loop-helix protein 15 [KO:K08040]
105295195  RFX6; DNA-binding protein RFX6 [KO:K19521]
105296362  PKLR; pyruvate kinase PKLR [KO:K12406] [EC:2.7.1.40]
105296704  HNF4G; hepatocyte nuclear factor 4-gamma [KO:K08037]
105296893  NR5A2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
105297331  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
105298232  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
105299216  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
105300112  NEUROG3; neurogenin-3 [KO:K08028]
105304987  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
105305684  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [KO:K07593]
105306395  HES1; transcription factor HES-1 [KO:K06054]
105306540  [KO:K08039]
105306546  IAPP; LOW QUALITY PROTEIN: islet amyloid polypeptide [KO:K08039]
105307975  FOXA2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
105308746  GCK; glucokinase [KO:K12407] [EC:2.7.1.2]
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
pvp04910  Insulin signaling pathway
pvp04930  Type II diabetes mellitus
KO pathway
ko04950   

DBGET integrated database retrieval system