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Gene: ABCD3 (ATP binding cassette subfamily D member 3) Homo sapiens
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Symbol: ABCD3
Name: ATP binding cassette subfamily D member 3
Description: Exhibits ATP binding activity; ATPase activity; and protein homodimerization activity. Involved in fatty acid metabolic process and peroxisome organization. Localizes to the peroxisomal matrix and peroxisomal membrane. Implicated in Zellweger syndrome and congenital bile acid synthesis defect 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 70 kDa peroxisomal membrane protein; ABC43; ATP-binding cassette sub-family D member 3; ATP-binding cassette, sub-family D (ALD), member 3; CBAS5; dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1)); peroxisomal membrane protein 1 (70kD, Zellweger syndrome); Peroxisomal membrane protein-1 (70kD); PMP70; PXMP1; ZWS2
Orthologs:
Mus musculus (house mouse) : Abcd3 (ATP-binding cassette, sub-family D (ALD), member 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Abcd3 (ATP binding cassette subfamily D member 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Abcd3 (ATP binding cassette subfamily D member 3)
Pan paniscus (bonobo/pygmy chimpanzee) : ABCD3 (ATP binding cassette subfamily D member 3)
Canis lupus familiaris (dog) : ABCD3 (ATP binding cassette subfamily D member 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Abcd3 (ATP binding cassette subfamily D member 3)
Sus scrofa (pig) : ABCD3 (ATP binding cassette subfamily D member 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38194,418,086 - 94,518,663 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37194,883,933 - 94,984,219 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,656,599 - 94,756,672 (+)NCBINCBI36hg18NCBI36
Build 34194,596,031 - 94,696,105NCBI
Celera193,137,599 - 93,238,680 (+)NCBI
Cytogenetic Map1p21.3ENTREZGENE
HuRef193,005,619 - 93,105,917 (+)NCBIHuRef
CHM1_1194,998,783 - 95,099,070 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ABCD3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736620
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.