ABCD4 E583Lfs*9

Stable Identifier
R-HSA-5683320
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family D member 4, ABCD4_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCD4, PXMP1L
Chain
chain:1-606
Reference Transcript
Other Identifiers
0000360670
11718612_a_at
11718613_a_at
11752625_a_at
16794656
203981_s_at
203982_s_at
3396
3571817
3571818
3571819
3571823
3571825
3571828
3571831
3571834
3571838
3571840
3571842
3571844
3571846
3571850
3571856
3571857
3571859
3571860
3571863
3571866
3571867
3571873
3571874
39121_at
5826
7980115
A0A024R6B9
A_23_P37327
ABCD4
ABCD4-201
CCDS9828
ENSG00000119688
ENSP00000349396
ENST00000356924
EntrezGene:5826
g4826957_3p_a_at
GE60314
GO:0000166
GO:0005524
GO:0005765
GO:0005777
GO:0005778
GO:0005789
GO:0006810
GO:0009235
GO:0016020
GO:0016021
GO:0016887
GO:0042626
GO:0043190
GO:0055085
GO:1990830
HGNC:68
HPA003396
Hs.94395
Hs.94395.4.S1_3p_a_at
ILMN_1651501
ILMN_1717701
ILMN_2343917
MIM:603214
MIM:614857
NM_001353595
NM_005050
NP_001340524
NP_005041
NP_064730
NR_003256
PF00005
PF06472
PH_hs_0005175
SM00382
TC14001304.hg
TC14002086.hg
uc001xpr.3
UPI000004C4C8
XM_005267939
XM_005267940
XM_005267941
XM_005267942
XM_005267946
XM_005267949
XM_006720223
XM_011537041
XM_017021531
XM_017021532
XM_017021533
XM_017021534
XM_017021535
XM_017021536
XM_017021537
XM_017021538
XM_017021539
XM_017021540
XM_017021541
XM_017021542
XM_017021543
XP_005267997
XP_005267999
XP_011535343
XP_016877020
XP_016877023
XP_016877028
XP_016877029
XP_016877030
XP_016877031
XR_001750476
XR_001750478
XR_001750480
XR_001750482
XR_001750483
XR_245710
XR_943500
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 583 to 590 by LRSFIPWF
Disease
Name Identifier Synonyms
homocystinuria 9263 cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder), CBS deficiency
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
Cross References
RefSeq
GeneCards
PRO
Orphanet