MONDO:0001071 |
MONDO:0001071
Disease Name: intellectual disability
Orphanet id: Orphanet:319658
All associated enzymes in DAR:
CYP2U1
DHX16
CBS
POLG
UFSP2
P4HTM
PDIA3
DHX30
TET3
ALG3
NAGLU
CHD3
SMPD1
DHX34
GCH1
CARNMT1
CYP27A1
ABCD1
CHD2
DDX54
INO80
PTPN4
DHX37
ABCD1 |
P33897 |
3.1.2.-
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-390247
R-HSA-390247
Reactome Name: Beta-oxidation of very long chain fatty acids
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-2046105
|
R-HSA-9609507
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-390918
R-HSA-382551
R-HSA-1430728
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
R-HSA-556833
R-HSA-8978868
|
Protein localization
Transport of small molecules
Metabolism
|
R-HSA-2046087
(
R-HSA-2046106
)
R-HSA-2046087
Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-2046093
(
R-HSA-2046105
)
R-HSA-2046093
Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-382575
(
R-HSA-1369062
)
R-HSA-382575
Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
See in Reactome
R-HSA-382613
(
R-HSA-1369062
)
R-HSA-382613
Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane
See in Reactome
R-HSA-390393
(
R-HSA-390247
)
R-HSA-390393
Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA
See in Reactome
R-HSA-9603775
(
R-HSA-9603798
)
R-HSA-9603775
Reaction Name: PEX3:PEX19:class I PMP dissociates
See in Reactome
R-HSA-9603784
(
R-HSA-9603798
)
R-HSA-9603804
(
R-HSA-9603798
)
R-HSA-9603804
Reaction Name: PEX19 binds class I peroxisomal membrane proteins
See in Reactome
|
MONDO:0009410 |
ABCD1 |
P33897 |
3.1.2.-
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-390247
R-HSA-390247
Reactome Name: Beta-oxidation of very long chain fatty acids
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-2046105
|
R-HSA-9609507
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-390918
R-HSA-382551
R-HSA-1430728
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
R-HSA-556833
R-HSA-8978868
|
Protein localization
Transport of small molecules
Metabolism
|
R-HSA-2046087
(
R-HSA-2046106
)
R-HSA-2046087
Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-2046093
(
R-HSA-2046105
)
R-HSA-2046093
Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-382575
(
R-HSA-1369062
)
R-HSA-382575
Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
See in Reactome
R-HSA-382613
(
R-HSA-1369062
)
R-HSA-382613
Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane
See in Reactome
R-HSA-390393
(
R-HSA-390247
)
R-HSA-390393
Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA
See in Reactome
R-HSA-9603775
(
R-HSA-9603798
)
R-HSA-9603775
Reaction Name: PEX3:PEX19:class I PMP dissociates
See in Reactome
R-HSA-9603784
(
R-HSA-9603798
)
R-HSA-9603804
(
R-HSA-9603798
)
R-HSA-9603804
Reaction Name: PEX19 binds class I peroxisomal membrane proteins
See in Reactome
|
MONDO:0010247 |
ABCD1 |
P33897 |
3.1.2.-
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-390247
R-HSA-390247
Reactome Name: Beta-oxidation of very long chain fatty acids
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-2046105
|
R-HSA-9609507
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-390918
R-HSA-382551
R-HSA-1430728
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
R-HSA-556833
R-HSA-8978868
|
Protein localization
Transport of small molecules
Metabolism
|
R-HSA-2046087
(
R-HSA-2046106
)
R-HSA-2046087
Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-2046093
(
R-HSA-2046105
)
R-HSA-2046093
Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-382575
(
R-HSA-1369062
)
R-HSA-382575
Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
See in Reactome
R-HSA-382613
(
R-HSA-1369062
)
R-HSA-382613
Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane
See in Reactome
R-HSA-390393
(
R-HSA-390247
)
R-HSA-390393
Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA
See in Reactome
R-HSA-9603775
(
R-HSA-9603798
)
R-HSA-9603775
Reaction Name: PEX3:PEX19:class I PMP dissociates
See in Reactome
R-HSA-9603784
(
R-HSA-9603798
)
R-HSA-9603804
(
R-HSA-9603798
)
R-HSA-9603804
Reaction Name: PEX19 binds class I peroxisomal membrane proteins
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:0015339 |
ABCD1 |
P33897 |
3.1.2.-
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-390247
R-HSA-390247
Reactome Name: Beta-oxidation of very long chain fatty acids
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-2046105
|
R-HSA-9609507
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-390918
R-HSA-382551
R-HSA-1430728
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
R-HSA-556833
R-HSA-8978868
|
Protein localization
Transport of small molecules
Metabolism
|
R-HSA-2046087
(
R-HSA-2046106
)
R-HSA-2046087
Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-2046093
(
R-HSA-2046105
)
R-HSA-2046093
Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-382575
(
R-HSA-1369062
)
R-HSA-382575
Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
See in Reactome
R-HSA-382613
(
R-HSA-1369062
)
R-HSA-382613
Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane
See in Reactome
R-HSA-390393
(
R-HSA-390247
)
R-HSA-390393
Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA
See in Reactome
R-HSA-9603775
(
R-HSA-9603798
)
R-HSA-9603775
Reaction Name: PEX3:PEX19:class I PMP dissociates
See in Reactome
R-HSA-9603784
(
R-HSA-9603798
)
R-HSA-9603804
(
R-HSA-9603798
)
R-HSA-9603804
Reaction Name: PEX19 binds class I peroxisomal membrane proteins
See in Reactome
|
MONDO:0018309 |
ABCD1 |
P33897 |
3.1.2.-
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-390247
R-HSA-390247
Reactome Name: Beta-oxidation of very long chain fatty acids
See in Reactome
R-HSA-2046106
R-HSA-2046106
Reactome Name: alpha-linolenic acid (ALA) metabolism
See in Reactome
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-2046105
|
R-HSA-9609507
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-390918
R-HSA-382551
R-HSA-1430728
R-HSA-2046104
R-HSA-2046104
Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
See in Reactome
R-HSA-556833
R-HSA-8978868
|
Protein localization
Transport of small molecules
Metabolism
|
R-HSA-2046087
(
R-HSA-2046106
)
R-HSA-2046087
Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-2046093
(
R-HSA-2046105
)
R-HSA-2046093
Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes
See in Reactome
R-HSA-382575
(
R-HSA-1369062
)
R-HSA-382575
Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
See in Reactome
R-HSA-382613
(
R-HSA-1369062
)
R-HSA-382613
Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane
See in Reactome
R-HSA-390393
(
R-HSA-390247
)
R-HSA-390393
Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA
See in Reactome
R-HSA-9603775
(
R-HSA-9603798
)
R-HSA-9603775
Reaction Name: PEX3:PEX19:class I PMP dissociates
See in Reactome
R-HSA-9603784
(
R-HSA-9603798
)
R-HSA-9603804
(
R-HSA-9603798
)
R-HSA-9603804
Reaction Name: PEX19 binds class I peroxisomal membrane proteins
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
|