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Abcd1
Gene Detail
Symbol

Name
ID
Abcd1
ATP-binding cassette, sub-family D (ALD), member 1
MGI:1349215
Synonyms
Ald, Aldgh, ALDP
Feature Type
protein coding gene
Genetic Map
Chromosome X
37.39 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
ChrX:73716597-73738534 bp, + strand
From VEGA annotation of GRCm38

  21938 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55426  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ABCD1
Gene Tree: Abcd1

Human
homologs
ABCD1, ATP-binding cassette, sub-family D (ALD), member 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 215
neXtProt AC: NX_P33897

Human Synonyms: ABC42, ALD, ALDP, AMN

Human Chr (Location): Xq28; chrX:153724851-153744762 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ABCD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous/hemizygous for disruptions in this gene develop a late onset of neurodegenerative disease (no neurological symptoms up to 6 months of age), with an accumulation of very long chain fatty acids.
 
Human Diseases Modeled in Mice Using Abcd1 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Abcd1 interacts with 156 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (129)    Tissues (121)    Images (10)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 108
Northern blot 21
cDNA source data(63)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase abcd1    NEW 
Molecular
reagents
All nucleic(69) Genomic(4) cDNA(64) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000017700 (Evidence)
Ensembl Gene Model ENSMUSG00000031378 (Evidence)
Entrez Gene 11666 (Evidence)
UniGene 365
DFCI TC1579269
DoTS DT.91350507, DT.531960, DT.101359440
NIA Mouse Gene Index U019942
Consensus CDS Project CCDS30210.1
International Mouse Phenotyping Consortium Status Abcd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017700 VEGA Gene Model | MGI Sequence Detail 21938 C57BL/6J ±  kb
transcript OTTMUST00000042898 VEGA | MGI Sequence Detail 3648 Not Applicable 
polypeptide OTTMUSP00000019283 VEGA | MGI Sequence Detail 736 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(2)
Polymorphisms
PCR(1) : SNPs within 2kb(122 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR005283 Peroxysomal long chain fatty acyl transporter
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003565 ATP-binding cassette sub-family D member 1
References
(Earliest) J:22184 Sarde CO, et al., cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mamm Genome. 1994 Dec;5(12):810-3
(Latest) J:199135 Lopez-Erauskin J, et al., Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013 Aug 15;22(16):3296-305
All references(67)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-16457, MGI:99672

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory