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Gene: ABCD1 (ATP binding cassette subfamily D member 1) Homo sapiens
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Symbol: ABCD1
Name: ATP binding cassette subfamily D member 1
Description: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct 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 peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC42; adrenoleukodystrophy protein; ALD; ALDP; AMN; ATP-binding cassette sub-family D member 1; ATP-binding cassette, sub-family D (ALD), member 1
Orthologs:
Mus musculus (house mouse) : Abcd1 (ATP-binding cassette, sub-family D (ALD), member 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Abcd1 (ATP binding cassette subfamily D member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Abcd1 (ATP binding cassette subfamily D member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : ABCD1 (ATP binding cassette subfamily D member 1)
Canis lupus familiaris (dog) : ABCD1 (ATP binding cassette subfamily D member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Abcd1 (ATP binding cassette subfamily D member 1)
Sus scrofa (pig) : ABCD1 (ATP binding cassette subfamily D member 1)
more info ...
Related Pseudogenes: ABCD1P1   ABCD1P2   ABCD1P3   ABCD1P4   ABCD1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,724,851 - 153,744,762 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,990,323 - 153,010,216 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,643,530 - 152,663,375 (+)NCBINCBI36hg18NCBI36
Build 34X152,511,182 - 152,531,028NCBI
CeleraX153,224,004 - 153,243,898 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,647,579 - 141,667,479 (+)NCBIHuRef
CHM1_1X152,864,732 - 152,884,627 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ABCD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352747
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.