| HNF4A/transcription factor |
Hepatocyte nuclear factor-4 alpha |
20q12 |
MODY 1 |
Causes progressive beta-cell dysfunction, leading to macrosomia and hyperinsulinemic hypoglycemia.8,19
|
| GCK/glycolytic enzyme |
Glucokinase |
7p15 |
MODY 2 |
Disrupts glucose sensing, leading to hyperglycemia.20,21
|
| HNFIA/transcription factor |
Hepatocyte nuclear factor-1 alpha |
12q24.31 |
MODY 3 |
Causes gradual beta-cell dysfunction, leading to reduced insulin production and progressive hyperglycemia.21,22
|
| IPFI/PDX1/transcription factor |
Insulin promoter factor /Pancreatic duodenal homeobox |
13q27.92 |
MODY 4 |
Causes pancreatic agenesis, beta-cell developmental errors, and defective insulin secretion.23,24
|
| HNFIB/transcription factor |
Hepatocyte nuclear factor 1B |
17q12 |
MODY 5 |
Results in dysfunctional pancreatic embryonic development, the formation of kidney cyst, and suppresses cytokine signaling 3.25,26
|
| NEURODI/transcription factor |
Neurogenic differentiation 1 |
2q31.3 |
MODY 6 |
Impairs pancreatic morphogenesis and beta-cell differentiation.27,28
|
| KLFII/transcription factor |
Krüppel-like factor 11 |
2p25.1 |
MODY 7 |
Disrupts the activation of some insulin promoters. It also suppresses the expression of certain free radical scavengers such as catalase and superoxide dismutase, disrupting pancreatic beta-cell function.29,30
|
| CELL/lipase |
Carboxyl ester lipase |
9q34 |
MODY 8 |
Alters C-terminal sequencing. It can also disrupt exocrine and endocrine functioning of pancreas.6,31
|
| PAX4/Transcription factor |
Paired box 4 |
7q32.1 |
MODY 9 |
Truncates embryonic beta-cell development, inhibiting beta-cell differentiation.32,33
|
| INS/Insulin synthesis |
Insulin hormone |
11p15.5 |
MODY 10 |
Causes molecular defects in the β-cell and increases endoplasmic reticulum (ER) stress, resulting in the synthesis of structurally altered (pre)proinsulin molecules and low insulin biosynthesis.34,35
|
| BLK/B-cell receptor signaling and development, stimula |
B-lymphocyte kinase |
8p23.1 |
MODY 11 |
Suppresses MIN6 B-cells, disrupting beta-cell functions.36,37
|
| ABCC8/regulates insulin secretion |
ATP binding cassette subfamily C member 8 |
11p15.1 |
MODY 12 |
Causes congenital hyperinsulinism, adversely affecting the biogenesis and insulin trafficking of KATP channels.38,39
|
| KCNJII/regulates insulin secretion |
Inward-rectifyier potassium channel, subfamily J, member 11 |
11p15.1 |
MODY 13 |
Causes congenital hyperinsulinism, adversely affecting the biogenesis and insulin trafficking of KATP channels.39,40
|
| APPL1/regulates cell proliferation, cellular signaling pathways |
Adaptor protein, Phosphotyrosine interacting with PH domain and Leucine Zipper 1 |
3p14.3 |
MODY 14 |
Starts off the beta-cell structural abnormality and gradual death, leading to developmental delay. It can also suppress the insulin-uptake regulatory role of AKT2.41,42
|
| ISL-1/transcription factor, INS enhancer |
ISL LIM homeobox 1 |
5q11 |
- |
Interferes with the expression of several genes, including insulin gene, also causes poor islet differentiation and proliferation.43,44
|
| RFX6/Regulatory factor (regulates the transcription factors involved in beta-cell maturation and function) |
Regulatory factor X |
6q22.1 |
- |
Causes beta-cell dysfunction, leading to reduced insulin secretion and hyperglycemia.45,46
|
| NK6-1/transcription factor |
NK6 homeobox 1 |
4q21.23 |
- |
Beta-cell dysfunction.47
|
