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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Abcd1 ± 2 cM)

Gene Tree: Abcd1

Human ortholog

ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 NCBI Gene ID 215
Human Synonyms: ABC42, ALD, ALDP, AMN
Human ChrX:152990323-153010216 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human ABCD1 (1)

Alleles and phenotypes

All alleles(6) : Targeted(5) Gene trapped(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (33 annotations)

Process	ATP catabolic process, fatty acid beta-oxidation, ...
Component	cytoplasm, integral to membrane, ...
Function	ATPase activity, ATP binding, ...

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 Type	Results
RNA in situ	108
Northern blot	21

cDNA source data(65)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(71) Genomic(4) cDNA(66) 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.101359440, DT.531960, DT.91350507
NIA Mouse Gene Index	U019942
Consensus CDS Project	CCDS30210.1
International Mouse Knockout Project Status	Abcd1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017700	VEGA Gene Model | MGI Sequence Detail	21938	C57BL/6J
transcript	OTTMUST00000042898	VEGA | MGI Sequence Detail	3648	Not Applicable
polypeptide	OTTMUSP00000019283	VEGA | MGI Sequence Detail	736	Not Applicable

All sequences(36) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(117 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR017940	ABC transporter, integral membrane type 1
InterPro	IPR003439	ABC transporter-like
InterPro	IPR010509	ABC transporter, N-terminal
InterPro	IPR005283	Peroxysomal long chain fatty acyl transporter
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:192378 Baarine M, et al., Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-directed knockdown of ABCD1 and ACOX1 peroxisomal proteins. Neuroscience. 2012 Jun 28;213:1-18
All references(67)

Other accession IDs

MGD-MRK-16457, MGI:99672