ABCA12 K1671Ifs*4 [plasma membrane]

Stable Identifier
R-HSA-5682320
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family A member 12, ABCAC_HUMAN
ABCA12 K1671Ifs*4 [plasma membrane] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA12, ABC12
Chain
chain:1-2595
Other Identifiers
11732683_a_at
11732684_a_at
16907979
215465_PM_at
215465_at
2598146
2598147
2598149
2598150
2598151
2598152
2598153
2598154
2598155
2598156
2598157
2598158
2598159
2598160
2598161
2598163
2598166
2598168
2598169
2598170
2598171
2598172
2598173
2598174
2598175
2598176
2598177
2598178
2598179
2598180
2598182
2598183
2598185
2598186
2598187
2598188
2598189
2598190
2598191
2598192
2598193
2598194
2598195
2598197
2598198
2598199
2598200
2598201
2598202
2598203
2598204
2598207
2598208
2598209
2598210
2598211
2598212
2598213
2598214
2598215
2598216
2598217
2598219
2598230
2598232
2598233
2598234
26154
31754_at
3943816
8058708
A_23_P56369
A_33_P3367984
GE479853
GO:0000139
GO:0000166
GO:0003336
GO:0003824
GO:0005102
GO:0005215
GO:0005319
GO:0005515
GO:0005524
GO:0005737
GO:0005794
GO:0005829
GO:0005886
GO:0006629
GO:0006672
GO:0006869
GO:0006886
GO:0007155
GO:0010875
GO:0016020
GO:0016192
GO:0016787
GO:0016887
GO:0019725
GO:0023052
GO:0030154
GO:0030216
GO:0030658
GO:0031410
GO:0031424
GO:0032379
GO:0032940
GO:0033344
GO:0033700
GO:0034040
GO:0034191
GO:0034204
GO:0035627
GO:0042626
GO:0043129
GO:0043226
GO:0043231
GO:0045055
GO:0045616
GO:0048286
GO:0048856
GO:0051649
GO:0055085
GO:0055088
GO:0061024
GO:0061178
GO:0061436
GO:0072659
GO:0097209
GO:0097234
GO:0140326
GO:0140359
GO:0140657
GO:2000010
HMNXSV003053988
Hs.134585.0.S1_3p_at
ILMN_1750250
ILMN_2361400
PH_hs_0008099
TC02002746.hg
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 1671 to 1673 by IVL
Disease
Name Identifier Synonyms
autosomal recessive congenital ichthyosis DOID:0060655 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
Cross References
Guide to Pharmacology - Targets
766
OpenTargets
IntEnz
GeneCards
PRO
Pharos - Targets
Orphanet
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