help  | about  | cite  | software

Gene : ABCD4 Homo sapiens

Name  ? ATP binding cassette subfamily D member 4 Cytological Location  14q24.3
Brief Description  ATP binding cassette subfamily D member 4
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. 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 several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
  • synonyms:
  • OTTHUMG00000171207,
  • ABCD4,
  • PXMP1L,
  • ABC41,
  • EST352188,
  • P70R,
  • HGNC:68,
  • P79R,
  • NM_005050,
  • EST352188,
  • uc001xpr.3,
  • PMP69,
  • PMP69,
  • PXMP1L,
  • MAHCJ,
  • ATP-binding cassette, sub-family D (ALD), member 4,
  • AF009746,
  • P70R
  • identifiers:
  • 5826,
  • ENSG00000119688,
  • ABCD4

Genome feature

Region: gene ? Length: 17794  
Location: 14:74285269-74303062 reverse strand Cyto location: 14q24.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer

Gene --> Orthologues


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3756 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results