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:0007610 |
ABCA5 |
Q8WWZ7 |
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8848053
(
R-HSA-1369062
)
R-HSA-8848053
Reaction Name: ABCA5 transports CHOL from lysosomal lumen to cytosol
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:0009443 |
ABCA12 |
Q86UK0 |
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-382551
|
Transport of small molecules
|
R-HSA-5682285
(
R-HSA-1369062
)
R-HSA-5682285
Reaction Name: ABCA12 transports lipids from cytosol to extracellular region
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:0012153 |
ABCA7 |
Q8IZY2 |
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-382551
|
Transport of small molecules
|
R-HSA-382553
(
R-HSA-1369062
)
R-HSA-382553
Reaction Name: ABCA7:Apo1A-mediated phospholipid efflux
See in Reactome
|
MONDO:0012582 |
ABCA3 |
Q99758 |
7.6.2.2
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-5683826
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-392499
R-HSA-382551
|
Metabolism of proteins
Transport of small molecules
|
R-HSA-5683714
(
R-HSA-1369062;
R-HSA-5683826
)
R-HSA-5683714
Reaction Name: ABCA3 transports PC, PG from ER membrane to lamellar body
See in Reactome
|
MONDO:0012672 |
ABCG8 |
Q9H221 |
7.6.2.-
|
R-HSA-9029569
R-HSA-9029569
Reactome Name: NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
See in Reactome
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-9006931
R-HSA-9006931
Reactome Name: Signaling by Nuclear Receptors
See in Reactome
R-HSA-162582
R-HSA-9024446
R-HSA-9024446
Reactome Name: NR1H2 and NR1H3-mediated signaling
See in Reactome
R-HSA-382551
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
|
Signal Transduction
Transport of small molecules
|
R-HSA-265783
(
R-HSA-1369062
)
R-HSA-265783
Reaction Name: ABCG5:ABCG8 transports sterols from cytosol to extracellular region
See in Reactome
R-HSA-9029591
(
R-HSA-9029569
)
R-HSA-9029591
Reaction Name: Expression of ABCG8 regulated by NR1H2 or NR1H3
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:0015052 |
ABCA3 |
Q99758 |
7.6.2.2
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-5683826
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-392499
R-HSA-382551
|
Metabolism of proteins
Transport of small molecules
|
R-HSA-5683714
(
R-HSA-1369062;
R-HSA-5683826
)
R-HSA-5683714
Reaction Name: ABCA3 transports PC, PG from ER membrane to lamellar body
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:0015924 |
ABCA3 |
Q99758 |
7.6.2.2
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
R-HSA-5683826
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-392499
R-HSA-382551
|
Metabolism of proteins
Transport of small molecules
|
R-HSA-5683714
(
R-HSA-1369062;
R-HSA-5683826
)
R-HSA-5683714
Reaction Name: ABCA3 transports PC, PG from ER membrane to lamellar body
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:0019306 |
ABCA12 |
Q86UK0 |
7.6.2.1
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-382551
|
Transport of small molecules
|
R-HSA-5682285
(
R-HSA-1369062
)
R-HSA-5682285
Reaction Name: ABCA12 transports lipids from cytosol to extracellular region
See in Reactome
|
MONDO:0020747 |
ABCG8 |
Q9H221 |
7.6.2.-
|
R-HSA-9029569
R-HSA-9029569
Reactome Name: NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
See in Reactome
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-9006931
R-HSA-9006931
Reactome Name: Signaling by Nuclear Receptors
See in Reactome
R-HSA-162582
R-HSA-9024446
R-HSA-9024446
Reactome Name: NR1H2 and NR1H3-mediated signaling
See in Reactome
R-HSA-382551
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
|
Signal Transduction
Transport of small molecules
|
R-HSA-265783
(
R-HSA-1369062
)
R-HSA-265783
Reaction Name: ABCG5:ABCG8 transports sterols from cytosol to extracellular region
See in Reactome
R-HSA-9029591
(
R-HSA-9029569
)
R-HSA-9029591
Reaction Name: Expression of ABCG8 regulated by NR1H2 or NR1H3
See in Reactome
|
MONDO:0020748 |
ABCG5 |
Q9H222 |
7.6.2.-
|
R-HSA-9029569
R-HSA-9029569
Reactome Name: NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
See in Reactome
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-9006931
R-HSA-9006931
Reactome Name: Signaling by Nuclear Receptors
See in Reactome
R-HSA-162582
R-HSA-9024446
R-HSA-9024446
Reactome Name: NR1H2 and NR1H3-mediated signaling
See in Reactome
R-HSA-382551
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
|
Signal Transduction
Transport of small molecules
|
R-HSA-265783
(
R-HSA-1369062
)
R-HSA-265783
Reaction Name: ABCG5:ABCG8 transports sterols from cytosol to extracellular region
See in Reactome
R-HSA-9029531
(
R-HSA-9029569
)
R-HSA-9029531
Reaction Name: Expression of ABCG5 regulated by NR1H2,3
See in Reactome
|
MONDO:0032930 |
ABCA2 |
Q9BZC7 |
7.6.2.-
|
R-HSA-1369062
R-HSA-1369062
Reactome Name: ABC transporters in lipid homeostasis
See in Reactome
|
R-HSA-382556
R-HSA-382556
Reactome Name: ABC-family proteins mediated transport
See in Reactome
R-HSA-382551
|
Transport of small molecules
|
R-HSA-1369028
(
R-HSA-1369062
)
R-HSA-1369052
(
R-HSA-1369062
)
|