ABCD1 T77_L82del

Stable Identifier
R-HSA-5685088
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ALDP
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCD1, ALD
Chain
chain:1-745
Reference Transcript
Other Identifiers
0003360048
11727955_at
17108096
205142_3p_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
3995865
3995866
3995868
3995869
3995870
3995874
3995875
3995876
3995877
3995878
8170704
89043_at
A6NEP8
A_23_P148556
AAH15541
AAH25358
ABCD1
ABCD1-201
BC015541
BC025358
CAA79922
CAA83230
CCDS14728
ENSG00000101986
ENSP00000218104
ENST00000218104
EntrezGene:215
g7262392_3p_at
g7262392_3p_x_at
GE58202
GO:0000166
GO:0003674
GO:0005215
GO:0005324
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005777
GO:0005778
GO:0005779
GO:0005829
GO:0006629
GO:0006635
GO:0006810
GO:0007031
GO:0008150
GO:0009056
GO:0015910
GO:0015919
GO:0016020
GO:0016021
GO:0016887
GO:0019899
GO:0022857
GO:0033540
GO:0036109
GO:0042626
GO:0042758
GO:0042760
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0043651
GO:0044281
GO:0048471
GO:0055085
HGNC:61
ILMN_1772189
IPR003439
IPR003593
IPR005283
IPR011527
IPR017871
IPR027417
IPR031237
IPR036640
MIM:300100
MIM:300371
NM_000033
NP_000024
PF00005
PF06472
PH_hs_0009720
SM00382
TC0X000755.hg
U52111
U52111_rna3_at
uc004fif.2
UPI0000000DF5
XR_938507
Z21876
Z31006
Z31007
Z31008
Z31009
Z31010
Z31348
Participant Of
Other forms of this molecule
Modified Residues
Name
Deletion of residues 77 to 82
Disease
Name Identifier Synonyms
adrenoleukodystrophy 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
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet