ABCD1 T77_L82del [peroxisomal membrane]

Stable Identifier
R-HSA-5685088
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
peroxisomal membrane
Synonyms
ALDP
Icon
ABCD1 T77_L82del [peroxisomal membrane] icon
ABCD1 T77_L82del [peroxisomal membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P33897 ABCD1
Gene Names
ABCD1, ALD
Chain
chain:1-745
Reference Genes
BioGPS Gene:215 ABCD1
COSMIC (genes):ABCD1 ABCD1
CTD Gene:215 ABCD1
dbSNP Gene:215 ABCD1
ENSEMBL:ENSG00000101986 ABCD1
HGNC:61 ABCD1
KEGG:hsa:215 ABCD1
Monarch:215 ABCD1
NCBI Gene:215 ABCD1
OMIM:300371 ABCD1
UCSC:P33897 ABCD1
Reference Transcript
Other Identifiers
11727955_at
17108096
205142_3p_x_at
205142_PM_x_at
205142_x_at
215
2493590
2493591
2493592
2493593
2493595
2493597
3243379
33603_at
3688808
3688821
3689076
3935830
3935831
3995849
3995850
3995851
3995852
3995854
3995855
3995856
3995857
3995858
3995864
3995865
3995866
3995868
3995869
3995870
3995871
3995872
3995874
3995875
3995876
3995877
3995878
8170704
89043_at
A_23_P148556
A_33_P3330236
GE58202
GO:0000038
GO:0002082
GO:0003824
GO:0005215
GO:0005324
GO:0005515
GO:0005524
GO:0005737
GO:0005739
GO:0005764
GO:0005765
GO:0005773
GO:0005777
GO:0005778
GO:0005783
GO:0005789
GO:0005829
GO:0006629
GO:0006635
GO:0006790
GO:0007031
GO:0015607
GO:0015910
GO:0015916
GO:0015919
GO:0016020
GO:0016787
GO:0016887
GO:0019899
GO:0030497
GO:0031966
GO:0031998
GO:0032000
GO:0036109
GO:0036113
GO:0042626
GO:0042758
GO:0042760
GO:0042802
GO:0042803
GO:0043217
GO:0043226
GO:0043531
GO:0043651
GO:0046982
GO:0047617
GO:0048471
GO:0051900
GO:0052817
GO:0055085
GO:0055086
GO:0055089
GO:0055092
GO:0061024
GO:0140359
GO:0140657
GO:1900016
GO:1900407
GO:1901135
GO:1903427
GO:1990535
GO:2001280
HMNXSV003013678
ILMN_1772189
PH_hs_0009720
TC0X000755.hg
U52111_rna3_at
g7262392_3p_at
g7262392_3p_x_at
Participates
as a member of
Other forms of this molecule
ABCD1 [peroxisomal membrane]
ABCD1 [cytosol]
ABCD1 G277R [peroxisomal membrane]
ABCD1 M1V [peroxisomal membrane]
ABCD1 R554H [peroxisomal membrane]
ABCD1 S606L [peroxisomal membrane]
ABCD1 R617C [peroxisomal membrane]
Modified Residues
Name
Deletion of residues 77 to 82
Disease
Name Identifier Synonyms
adrenoleukodystrophy DOID:10588 ALD, Siemerling-Creutzfeldt Disease, diffuse sclerosis, X-linked adrenoleukodystrophy, Adrenoleukodystrophy, Schilder disease, Bronze Schilder disease, Encephalitis periaxialis, Schilder's, Encephalitis periaxialis concentrica, SUDANOPHILIC CEREBRAL SCLEROSIS
Cross References
RefSeq
Guide to Pharmacology - Targets
788
OpenTargets
ENSEMBL
HPA
PRO
Pharos - Targets
Orphanet
GlyGen
PDB
Interactors (7)
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