ABCD4 Gene
protein-coding GIFtS: 60
GCID: GC14M074751
|
|
ATP-binding cassette, sub-family D (ALD), member 4
(Previous symbol: PXMP1L)
| |
Aliases
for ABCD4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| ATP-Binding Cassette, Sub-Family D (ALD), Member 41 2 | | PMP70-Related Protein2 3 | | PMP691 2 3 5 | | P79R2 5 | | PXMP1L1 2 3 5 | | 69 KDa Peroxisomal ABC-Transporter2 | | P70R1 2 3 | | ABC412 | | EST3521881 2 | | MAHCJ2 | | Peroxisomal Membrane Protein 692 3 | | ATP-Binding Cassette Sub-Family D Member 42 | | PXMP1-L2 3 | | Peroxisomal Membrane Protein 1-Like3 |
| External Ids: | HGNC: 681 | Entrez Gene: 58262 | Ensembl: ENSG000001196887 | OMIM: 6032145 | UniProtKB: O146783 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n405975 | |
Export aliases for ABCD4 gene to outside databasesPrevious GC identifers: GC14M072257 GC14M068547 GC14M072742 GC14M073821 GC14M054918
Summaries
for ABCD4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ABCD4:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABCproteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into sevendistinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily,which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomalABC transporters are half transporters which require a partner half transporter molecule to form a functionalhomodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it isspeculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modifythe adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternativesplicing results in at least two different transcript variants, one which is protein-coding and one which is probablynot protein-coding. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomalrelease of vitamin B12 into the cytoplasm
Gene Wiki entry for ABCD4
|
Genomic Views
for ABCD4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ABCD4 gene promoter:
Elk-1 AML1a NRSF form 1 FOXO3 NRSF form 2 GATA-1 N-Myc FOXO3a c-Myb LyF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ABCD4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCD4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q24.3 Ensembl cytogenetic band: 14q24.3 HGNC cytogenetic band: 14q24ABCD4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M074751: view genomic region
(about GC identifiers)
Start:
|
74,751,980 bp from pter |
End:
|
74,769,767 bp from pter |
Size:
|
17,788 bases |
Orientation:
|
minus strand |
|
Proteins
for ABCD4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family D member 4 Size: 606 amino acids; 68597 Da
Subunit: Homodimer or heterodimer (Potential)
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: Q6IAQ0 Q96E75Explore the universe of human proteins at neXtProt for ABCD4: NX_O14678
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O14678
ABCD4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005041.1
ENSEMBL proteins: ENSP00000349396 ENSP00000434792 ENSP00000436782 ENSP00000450982 ENSP00000450611 ENSP00000450960 ENSP00000451778 ENSP00000432557 ENSP00000434626 ENSP00000450491 ENSP00000436527 ENSP00000452430 ENSP00000451521 ENSP00000451457 ENSP00000451993 ENSP00000451770 ENSP00000432630 ENSP00000298816
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
ABCD4 for ontologies About GeneDecksing
ABCD4 Antibody Products:
Assay Products for ABCD4: |
Protein
Domains /
Families
for ABCD4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ABCD4 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O14678ProtoNet protein and cluster: O14678 1 Blocks protein family: IPB010509 ABC transporter
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678Similarity: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC3.A.1.203) subfamilySimilarity: Contains 1 ABC transmembrane type-1 domainSimilarity: Contains 1 ABC transporter domain |
Function
for ABCD4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomalrelease of vitamin B12 into the cytoplasm Genatlas biochemistry entry for ABCD4:ATP-binding cassette superfamily,subfamily D (ALD),member 4,ubiquitously expressed,peroxisomal membrane protein1-like,transporter,putatively involved in ALDP expression
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ABCD4 (NM_005050) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCD4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCD4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD4 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ABCD4 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for ABCD4:
Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Abcd4):
ABCD4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ABCD4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Peroxisome | | | 2 | ABC-family proteins mediated transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Kegg Pathways (Kegg details for ABCD4):
ABCD4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCD4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/11 Interacting proteins for ABCD4 (O146783 ENSP000003493964) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
ABCD4 for ontologies About GeneDecksing
|
Drugs & Compounds
for ABCD4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ABCD4 for compounds About GeneDecksing
 Browse Tocris compounds for ABCD4
1 Novoseek chemical compound relationship for ABCD4 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fatty acid |
24.9 |
1 |
16223892 (1) |
Search CenterWatch for drugs/clinical trials and news about ABCD4
|
Transcripts
for ABCD4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ABCD4 gene (4 alternative transcripts): NM_005050.3 NM_020324.1 NM_020325.1 NM_020326.2 Unigene Cluster for ABCD4: ATP-binding cassette, sub-family D (ALD), member 4 Hs.94395 [show with all ESTs]Unigene Representative Sequence: AK12510918/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31): ENST00000356924(uc001xpr.2 uc001xps.2 uc010tur.2 uc001xpu.2 uc001xpv.2)
ENST00000556289 ENST00000481348 ENST00000481935 ENST00000555904 ENST00000553486
ENST00000556517 ENST00000465085 ENST00000553745 ENST00000474270 ENST00000484380
ENST00000496015 ENST00000466822 ENST00000557554 ENST00000469672 ENST00000556119
ENST00000460308 ENST00000553998
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ABCD4 (NM_005050) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCD4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCD4 |
Additional cDNA sequence: AF009746.1 AK125109.1 AK291332.1 AK297934.1 AK308382.1 BC012815.2 BT007412.1 BX248053.1 CR457104.1 NR_003256.2 U66690.1 24/27 DOTS entries (see all 27): DT.92431120 DT.115745 DT.95302301 DT.97780583 DT.95289825 DT.449343 DT.95289835 DT.97782716 DT.97795470 DT.97845420 DT.100773444 DT.100811176 DT.115748 DT.120749249 DT.120749279 DT.120749280 DT.100695826 DT.120749248 DT.91653617 DT.100811180 DT.120749237 DT.120749247 DT.92431125 DT.92437655 24/231 AceView cDNA sequences (see all 231): BI715158 AI590893 CA867306 AA485326 AW339051 AA381620 BM667379 BQ637204 C01003 AI559801 AA323823 CR593192 AI272299 AI141839 BX416997 T31528 AL596885 AI357397 BQ013416 BI906927 AA907773 BU177268 BQ893869 BG715756
GeneLoc Exon Structure
5/20 Alternative Splicing Database (ASD) splice patterns (SP) for ABCD4 (see all 20) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | - | | | | | | - | | - | | - | | | | | | | | - | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | · | 13d | · | 13e | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | · | 20d | · | 20e | · | 20f |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | | | | | | - | | | | - | | - | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | | | | | | | | | - | | - | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ABCD4
|
Expression
for ABCD4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ABCD4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTAAAG
About this image
See ABCD4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCD4
SOURCE GeneReport for Unigene cluster: Hs.94395
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678Tissue specificity: Ubiquitous
SABiosciences Expression via Pathway-Focused PCR Array including ABCD4:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCD4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCD4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCD4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCD4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD4 |
Orthologs
for ABCD4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ABCD4 gene from 8/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Abcd41 , 5 |
ATP-binding cassette, sub-family D (ALD), member 41, 5 |
88.17(n)1
89.6(a)1 |
|
12 (39.30 cM)5
193001 NM_008992.21 NP_033018.21
846025315 |
chicken
(Gallus gallus) |
Aves |
ABCD41 |
ATP-binding cassette, sub-family D (ALD), member 4 |
74.94(n)
77.36(a) |
|
423349 XM_421264.3 XP_421264.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ABCD46 |
-- |
74(a) |
1 ↔ 1 |
1(23514098-23534419) |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.186952 |
Transcribed sequence with moderate similarity to protein more |
77.13(n) |
|
BI984210.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
C54G10.33
pmp-31 |
peroxisomal membrane protein (PMP70)3
Protein PMP-31 |
41(a)3
47.55(n)1
42.15(a)1 |
|
V(14649823-14655488)3
1799681 NM_074219.21 NP_506620.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G543501 |
ABC transporter D family member 2 |
42.38(n)
31.7(a) |
|
841876 NM_104313.3 NP_175837.2 |
rice
(Oryza sativa) |
Liliopsida |
Os01g02187001 |
hypothetical protein |
42.45(n)
33.69(a) |
|
4324587 NM_001048948.1 NP_001042413.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
yddA6 |
fused predicted multidrug transporter subunits of ... |
23(a) |
1 → many |
Chromosome(1575681-1577366) |
ENSEMBL Gene Tree for ABCD4 (if available)
TreeFam Gene Tree for ABCD4 (if available) |
Paralogs
for ABCD4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ABCD4 gene
- ABCD32 ABCD12 ABCD22
2 SIMAP similar genes for ABCD4 using alignment to 11 protein entries: ABCD4_HUMAN (see all proteins):ABCD1 ABCD3
ABCD4 for paralogs About GeneDecksing
|
Genomic Variants
for ABCD4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ABCD4 (74751980 - 74769767 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ABCD4: --
Human Gene Mutation Database (HGMD): ABCD4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCD4 |
|
Disorders
/ Diseases
for ABCD4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ABCD4 for disorders About GeneDecksing
OMIM gene information: 603214
OMIM disorders: --
UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
Defects in ABCD4 are the cause of methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]. Adisorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) andmethylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, anddevelopmental delay
7  diseases for ABCD4: About MalaCardsadrenoleukodystrophy intrahepatic cholestasis cholestasis peroxisomal disease
ataxia tuberculosis mycobacterium tuberculosis
1 disease from the University of Copenhagen DISEASES database for ABCD4:Adrenoleukodystrophy 1 Novoseek disease relationship for ABCD4 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adrenoleukodystrophy |
90 |
4 |
14533738 (2), 16223892 (1), 15800013 (1) |
Human Genome Epidemiology (HuGE) Navigator: ABCD4 (2 documents)
Export disorders for ABCD4 gene to outside databases
|
Publications
for ABCD4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ABCD4 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with ABCD4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Primary structure of human PMP69, a putative peroxisomal ABC- transporter. (PubMed id 9266848)1, 2, 3, 9 Holzinger A.... Roscher A.A. (1997)
- Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PubMed id 9302272)1, 2, 3 Shani N.... Valle D. (1997)
- Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. (PubMed id 9599016)1, 2, 9 Holzinger A.... Kammerer S. (1998)
- Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PubMed id 22922874)1, 2 Coelho D....Baumgartner M.R. (2012)
- Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. (PubMed id 12111378)1, 2 Iida A.... Nakamura Y. (2002)
- Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (PubMed id 15800013)1, 9 Asheuer M....Aubourg P. (2005)
- Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (PubMed id 14533738)1, 9 Landgraf P....Holzinger A. (2003)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Two novel mutations in African and Asian children wit h progressive familial intrahepatic cholestasis type 3. (PubMed id 21514256)1 Giovannoni I....Francalanci P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
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External Searches for ABCD4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ABCD4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ABCD4 gene
(According to HUGE)
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Specialized Databases showing ABCD4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ABCD4 | Pharmacogenomics, SNPs, Pathways | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O14678 |
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| Patent Information for ABCD4 gene:
Search GeneIP for patents involving ABCD4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ABCD4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for ABCD4 | | OriGene shRNA RFP for ABCD4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCD4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCD4 | | | OriGene Protein Over-expression Lysate for ABCD4 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ABCD4 | | OriGene 3'-UTR Clone for ABCD4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCD4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ABCD4 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ABCD4 | | OriGene Custom Protein Services for ABCD4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCD4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCD4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCD4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCD4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCD4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCD4 |
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| | | | Search Tocris compounds for ABCD4 |
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 | | | ABCD4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD4 |
|  |  |  | | | | ThermoFisher Antibody for ABCD4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCD4 |
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