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:0010031 |
ALDH3A2 |
P51648 |
1.2.1.3
1.2.1.94
|
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
R-HSA-9696270
R-HSA-9696273
R-HSA-9609523
R-HSA-9609523
Reactome Name: Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
See in Reactome
R-HSA-389599
|
R-HSA-9609507
R-HSA-9012999
R-HSA-390918
R-HSA-194315
R-HSA-428157
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-162582
|
Protein localization
Metabolism
Signal Transduction
|
R-HSA-9696266
(
R-HSA-9696270
)
R-HSA-9696271
(
R-HSA-9696273
)
|
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:0014564 |
ABCD3 |
P28288 |
3.1.2.-
7.6.2.-
|
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-9013106
R-HSA-8980692
|
R-HSA-9609507
R-HSA-9012999
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-194315
R-HSA-382551
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-162582
|
Protein localization
Transport of small molecules
Signal Transduction
|
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-9013009
(
R-HSA-8980692
)
R-HSA-9013009
Reaction Name: RHOA binds effectors at the plasma membrane
See in Reactome
R-HSA-9013110
(
R-HSA-9013106
)
R-HSA-9013110
Reaction Name: RHOC binds effectors at the plasma membrane
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: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:0044330 |
ATAD1 |
Q8NBU5 |
7.4.2.-
|
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
|
R-HSA-9609507
|
Protein localization
|
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
|