ATP-Binding Cassette, Subfamily D, Member 1

Alternative Names

  • ABCD1
  • Adrenoleukodystrophy Protein
  • ALDP

Associated Diseases

Adrenoleukodystrophy
Back to search Result
OMIM Number

300371

NCBI Gene ID

215

Uniprot ID

P33897

Length

19,912 bases

No. of Exons

11

No. of isoforms

1

Protein Name

ATP-binding cassette sub-family D member 1

Molecular Mass

82937 Da

Amino Acid Count

745

Genomic Location

chrX:153,724,851-153,744,762

Gene Map Locus
Xq28

Description

The adrenoleukodystrophy protein is a member of the ATP-binding cassette transporter superfamily and the ALD subfamily of half transporters that are located in the peroxisome, where they function as homo- and/or heterodimers in the regulation of very long chain fatty acid transport. The exact function of adrenoleukodystrophy protein is unknown, but might be involved in the transport of saturated very long chain fatty acids into the peroxisome by analogy to its yeast homologs Pxa1p and Pxa2p.

 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000033.3:c.947A>CTunisiaNC_000023.11:g.153729278A>CLikely PathogenicAdrenoleukodystrophyNG_009022.1:g.9411A>C; NM_000033.3:c.947A>C; NP_000024.2:p.Gln316Pro
NM_000033.4:c.1509G>AUnited Arab EmiratesNC_000023.11:g.153740112G>ABenignNG_009022.1:g.20244G>A; NM_000033.4:c.1509G>A; NP_000024.2:p.Leu503=
NM_000033.4:c.1813C>GLebanonchrX:153743019Likely PathogenicAdrenoleukodystrophyNG_009022.2:g.23152C>G; NM_000033.4:c.1813C>G; NP_000024.2:p.Leu605Arg
NM_000033.4:c.309C>GUnited Arab EmiratesNC_000023.11:g.153725575C>GLikely PathogenicAdrenoleukodystrophyNG_009022.1:g.5708C>G; NM_000033.4:c.309C>G; NP_000024.2:p.Ser103Arg
NM_000033.4:c.394T>CUnited Arab EmiratesNC_000023.11:g.153725660T>CUncertain SignificanceNG_009022.2:g.5793T>C; NM_000033.4:c.394T>C; NP_000024.2:p.Trp132Arg1241378333
© CAGS 2024. All rights reserved.