ABCD4

ABCD4
Identifiers
Aliases	ABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4
External IDs	OMIM: 603214; MGI: 1349217; HomoloGene: 3703; GeneCards: ABCD4; OMA:ABCD4 - orthologs
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	84,664,187 bp
RNA expression pattern
	n/a
	Top expressed in
	yolk sac; ; right kidney; ; epiblast; ; Rostral migratory stream; ; granulocyte; ; lip; ; embryo; ; Paneth cell; ; embryo; ; crypt of lieberkuhn of small intestine;
	; ;
	More reference expression data
Gene ontology
Molecular function	ATPase activity; nucleotide binding; ATP binding; ATPase-coupled transmembrane transporter activity;
Cellular component	membrane; endoplasmic reticulum membrane; lysosomal membrane; ATP-binding cassette (ABC) transporter complex; peroxisomal membrane; integral component of membrane; peroxisome;
Biological process	cobalamin metabolic process; transmembrane transport; cellular response to leukemia inhibitory factor;
	Sources:Amigo / QuickGO
Orthologs
	5826
	19300
	ENSG00000119688
	ENSMUSG00000021240
	O14678
	O89016
	NM_005050; NM_020324; NM_020325; NM_020326
	NM_008992
NP_005041; NP_001340520; NP_001340521; NP_001340522; NP_001340523;
	NP_001340524; NP_001340525; NP_001340526; NP_001340527; NP_001340528; NP_001340529; NP_001340530; NP_001340531; NP_001340532; NP_001340533; NP_001340534; NP_001340535; NP_001340536; NP_001340537; NP_001340538; NP_001340539; NP_064720; NP_064730
	NP_033018
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.^[4]^[5]^[6]

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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding.^[6]