ATP-Binding Cassette, Subfamily D, Member 4

Alternative Names

  • ABCD4
  • Peroxisomal Membrane Protein 1-Like
  • PXMP1L
  • P70R
  • PMP69
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OMIM Number

603214

NCBI Gene ID

5826

Uniprot ID

O14678

Length

17,796 bases

No. of Exons

20

No. of isoforms

1

Protein Name

ATP-binding cassette sub-family D member 4

Molecular Mass

68597 Da

Amino Acid Count

606

Genomic Location

chr14:74,285,269-74,303,064

Gene Map Locus
14q24.3

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; 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001353592.2:c.1520C>ALebanonchr14:74286807Likely PathogenicMethylmalonic Aciduria and Homocystinuria, cbIJ TypeNG_032875.1:g.21258C>A; NM_001353592.2:c.1520C>A; NP_001340523.1:Ala507Glu
NM_005050.4:c.362G>ALebanonNC_000014.9:g.74297993C>TUncertain SignificanceLikely PathogenicMethylmalonic Aciduria and Homocystinuria, cbIJ TypeNG_032875.1:g.10072G>A; NM_005050.4:c.362G>A; NP_005041.1:p.Arg121His2017441011432158
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