MONDO:0002442 |
MONDO:0002442
Disease Name: long QT syndrome
Orphanet id: Orphanet:768
All associated enzymes in DAR:
TECRL
. The disease is also associated to other non-enzyme proteins (not in DAR).
TECRL |
Q5HYJ1 |
1.3.1.-
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548831
(
R-HSA-75876
)
R-HSA-548831
Reaction Name: TECR,TECRL dehydrogenate TOD-CoA to ST-CoA
See in Reactome
|
MONDO:0005518 |
MONDO:0005518
Disease Name: pseudohermaphroditism
All associated enzymes in DAR:
HSD17B3
. The disease is also associated to other non-enzyme proteins (not in DAR).
HSD17B3 |
P37058 |
1.1.1.64
1.1.1.62
|
R-HSA-193048
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-196071
R-HSA-8957322
|
Metabolism
|
R-HSA-193064
(
R-HSA-193048
)
R-HSA-193064
Reaction Name: HSD17B3-like proteins reducde ANDST to TEST
See in Reactome
R-HSA-548818
(
R-HSA-75876
)
R-HSA-548818
Reaction Name: HSD17B3,12 hydrogenates 3OOD-CoA to 3HODC-CoA
See in Reactome
|
MONDO:0007574 |
ELOVL4 |
Q9GZR5 |
2.3.1.199
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548830
(
R-HSA-75876
)
R-HSA-548830
Reaction Name: ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA
See in Reactome
|
MONDO:0009711 |
HACD1 |
B0YJ81 |
4.2.1.134
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-5676637
(
R-HSA-75876
)
R-HSA-5676637
Reaction Name: PTPLs dehydrate VLC3HA-CoA to VLCTDA-CoA
See in Reactome
|
MONDO:0009916 |
HSD17B3 |
P37058 |
1.1.1.64
1.1.1.62
|
R-HSA-193048
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-196071
R-HSA-8957322
|
Metabolism
|
R-HSA-193064
(
R-HSA-193048
)
R-HSA-193064
Reaction Name: HSD17B3-like proteins reducde ANDST to TEST
See in Reactome
R-HSA-548818
(
R-HSA-75876
)
R-HSA-548818
Reaction Name: HSD17B3,12 hydrogenates 3OOD-CoA to 3HODC-CoA
See in Reactome
|
MONDO:0010263 |
ACSL4 |
O60488 |
6.2.1.15
6.2.1.3
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
R-HSA-434313
R-HSA-434313
Reactome Name: Intracellular metabolism of fatty acids regulates insulin secretion
See in Reactome
|
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-400451
R-HSA-400451
Reactome Name: Free fatty acids regulate insulin secretion
See in Reactome
R-HSA-75105
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
|
Metabolism
|
R-HSA-434382
(
R-HSA-434313
)
R-HSA-434382
Reaction Name: ACSL3,4 ligates coenzyme A (CoA-SH) to palmitate yielding palmitoyl-coenzyme A in the pancreatic beta cell
See in Reactome
R-HSA-548843
(
R-HSA-75876
)
R-HSA-548843
Reaction Name: ACSL3,4 ligate CoA to AA to form AA-CoA
See in Reactome
|
MONDO:0010313 |
ACSL4 |
O60488 |
6.2.1.15
6.2.1.3
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
R-HSA-434313
R-HSA-434313
Reactome Name: Intracellular metabolism of fatty acids regulates insulin secretion
See in Reactome
|
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-400451
R-HSA-400451
Reactome Name: Free fatty acids regulate insulin secretion
See in Reactome
R-HSA-75105
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
|
Metabolism
|
R-HSA-434382
(
R-HSA-434313
)
R-HSA-434382
Reaction Name: ACSL3,4 ligates coenzyme A (CoA-SH) to palmitate yielding palmitoyl-coenzyme A in the pancreatic beta cell
See in Reactome
R-HSA-548843
(
R-HSA-75876
)
R-HSA-548843
Reaction Name: ACSL3,4 ligate CoA to AA to form AA-CoA
See in Reactome
|
MONDO:0010819 |
ELOVL4 |
Q9GZR5 |
2.3.1.199
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548830
(
R-HSA-75876
)
R-HSA-548830
Reaction Name: ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA
See in Reactome
|
MONDO:0013528 |
TECR |
Q9NZ01 |
1.3.1.93
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548831
(
R-HSA-75876
)
R-HSA-548831
Reaction Name: TECR,TECRL dehydrogenate TOD-CoA to ST-CoA
See in Reactome
|
MONDO:0013529 |
TECRL |
Q5HYJ1 |
1.3.1.-
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548831
(
R-HSA-75876
)
R-HSA-548831
Reaction Name: TECR,TECRL dehydrogenate TOD-CoA to ST-CoA
See in Reactome
|
MONDO:0013661 |
ACSF3 |
Q4G176 |
6.2.1.n3
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-5696007
(
R-HSA-75876
)
|
MONDO:0013760 |
ELOVL4 |
Q9GZR5 |
2.3.1.199
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
|
Metabolism
|
R-HSA-548830
(
R-HSA-75876
)
R-HSA-548830
Reaction Name: ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA
See in Reactome
|
MONDO:0014417 |
ELOVL5 |
Q9NYP7 |
2.3.1.199
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-2046105
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
|
Metabolism
|
R-HSA-2046083
(
R-HSA-2046105
)
R-HSA-2046083
Reaction Name: Elongation of arachidonyl-CoA to docosatetraenoyl-CoA
See in Reactome
R-HSA-2046088
(
R-HSA-2046106
)
R-HSA-2046088
Reaction Name: Elongation of stearidonoyl-CoA to eicosatetraenoyl-CoA
See in Reactome
R-HSA-2046094
(
R-HSA-2046105
)
R-HSA-2046094
Reaction Name: Elongation of gamma-lenolenoyl-CoA to dihomo-gamma-lenolenoyl-CoA
See in Reactome
R-HSA-2046100
(
R-HSA-2046106
)
R-HSA-2046100
Reaction Name: Elongation of eicosapentaenoyl-CoA to docosapentaenoyl-CoA
See in Reactome
R-HSA-548800
(
R-HSA-75876
)
R-HSA-548800
Reaction Name: ELOVL1,2,3,5 elongate AA-CoA and Mal-CoA to 3ODCT-CoA
See in Reactome
|
MONDO:0032798 |
ELOVL1 |
Q9BW60 |
2.3.1.199
|
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-2046105
|
R-HSA-556833
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
|
Metabolism
|
R-HSA-2046088
(
R-HSA-2046106
)
R-HSA-2046088
Reaction Name: Elongation of stearidonoyl-CoA to eicosatetraenoyl-CoA
See in Reactome
R-HSA-2046094
(
R-HSA-2046105
)
R-HSA-2046094
Reaction Name: Elongation of gamma-lenolenoyl-CoA to dihomo-gamma-lenolenoyl-CoA
See in Reactome
R-HSA-548800
(
R-HSA-75876
)
R-HSA-548800
Reaction Name: ELOVL1,2,3,5 elongate AA-CoA and Mal-CoA to 3ODCT-CoA
See in Reactome
R-HSA-548830
(
R-HSA-75876
)
R-HSA-548830
Reaction Name: ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA
See in Reactome
|