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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

Gene Tree: Abcd1

Human
homologs
Human Homolog ABCD1, ATP-binding cassette, sub-family D (ALD), member 1
NCBI Gene ID 215
neXtProt AC  NX_P33897
Human Synonyms  ABC42, ALD, ALDP, AMN
Human Chr (Location)  Xq28; chrX:153724868-153744762 (+)  GRCh38
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 Using Mouse Abcd1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Interactions
Abcd1 interacts with 156 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process ATP catabolic process, fatty acid beta-oxidation, ...
Component cytoplasm, integral component of membrane, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (129)    Tissues (120)    Images (10)
Theiler Stages: 17, 18, 20, 22, 23, 26, 28
Assay TypeResults
RNA in situ 108
Northern blot 21
cDNA source data(63)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(69) Genomic(4) cDNA(64) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017700 (Evidence)
Ensembl Gene ModelENSMUSG00000031378 (Evidence)
Entrez Gene11666 (Evidence)
UniGene365
DFCITC1579269
DoTSDT.101359440, DT.531960, DT.91350507
NIA Mouse Gene IndexU019942
Consensus CDS ProjectCCDS30210.1
International Mouse Knockout Project StatusAbcd1
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 IPR010509 ABC transporter, N-terminal
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(68)
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
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory