KEGG   PATHWAY: hsa04950Help
Entry
hsa04950                    Pathway                                
Name
Maturity onset diabetes of the young - Homo sapiens (human)
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 diseases
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Pathway map
Maturity onset diabetes of the young
hsa04950

All organismsOrtholog table
Disease
H00410  
Maturity onset diabetes of the young (MODY)
H00512  
Permanent neonatal diabetes mellitus (PNDM)
H00861  
Pancreatic agenesis
Organism
Homo sapiens (human) [GN:hsa]
Gene
3087  
HHEX; hematopoietically expressed homeobox [KO:K08024]
3110  
MNX1; motor neuron and pancreas homeobox 1 [KO:K08025]
3175  
ONECUT1; one cut homeobox 1 [KO:K08026]
3651  
PDX1; pancreatic and duodenal homeobox 1 [KO:K07594]
2494  
NR5A2; nuclear receptor subfamily 5, group A, member 2 [KO:K08027]
50674  
NEUROG3; neurogenin 3 [KO:K08028]
4821  
NKX2-2; NK2 homeobox 2 [KO:K08029]
4825  
NKX6-1; NK6 homeobox 1 [KO:K08030]
5080  
PAX6; paired box 6 [KO:K08031]
5078  
PAX4; paired box 4 [KO:K08032]
4760  
NEUROD1; neuronal differentiation 1 [KO:K08033]
3280  
HES1; hairy and enhancer of split 1, (Drosophila) [KO:K06054]
6928  
HNF1B; HNF1 homeobox B [KO:K08034]
3170  
FOXA2; forkhead box A2 [KO:K08035]
389692  
MAFA; v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) [KO:K07595]
3172  
HNF4A; hepatocyte nuclear factor 4, alpha [KO:K07292]
6927  
HNF1A; HNF1 homeobox A [KO:K08036]
3174  
HNF4G; hepatocyte nuclear factor 4, gamma [KO:K08037]
3171  
FOXA3; forkhead box A3 [KO:K08038]
5313  
PKLR; pyruvate kinase, liver and RBC [KO:K12406] [EC:2.7.1.40]
6514  
SLC2A2; solute carrier family 2 (facilitated glucose transporter), member 2 [KO:K07593]
3630  
INS; insulin [KO:K04526]
3375  
IAPP; islet amyloid polypeptide [KO:K08039]
2645  
GCK; glucokinase (hexokinase 4) [KO:K12407] [EC:2.7.1.2]
168620  
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)
Reference
  Authors
Habener JF, Kemp DM, Thomas MK.
  Title
Minireview: transcriptional regulation in pancreatic development.
  Journal
Endocrinology 146:1025-34 (2005)
Reference
  Authors
Ashizawa S, Brunicardi FC, Wang XP.
  Title
PDX-1 and the pancreas.
  Journal
Pancreas 28:109-20 (2004)
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)
KO pathway
 
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