ABCD subfamily of peroxisomal ABC transporters | Transporters

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ATP-binding cassette transporter family
ABCD subfamily of peroxisomal ABC transporters

ABCD subfamily of peroxisomal ABC transporters C

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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Peroxisomes are indispensable organelles in higher eukaryotes. They are essential for the oxidation of a wide variety of metabolites, which include: saturated, monounsaturated and polyunsaturated fatty acids, branched-chain fatty acids, bile acids and dicarboxylic acids [4]. However, the peroxisomal membrane forms an impermeable barrier to these metabolites. The mammalian peroxisomal membrane harbours three ATP-binding cassette (ABC) half-transporters, named ABCD1, -2 and -3. The ABCD transporters predominantly act as homodimers to transport different acyl-CoAs.

Transporters

ALDP (ABCD1) C Show summary »« Hide summary

Target Id	788
Systematic nomenclature	ABCD1
Common abbreviation	ALDP
Previous and unofficial names	Adrenoleukodystrophy protein \| ALD \| ALDP \| AMN \| ATP-binding cassette, sub-family D (ALD), member 1 \| Aldgh \| ATP-binding cassette, subfamily D (ALD), member 1 \| ATP-binding cassette
Genes	ABCD1 (Hs), Abcd1 (Mm), Abcd1 (Rn)
Ensembl ID	ENSG00000101986 (Hs), ENSMUSG00000031378 (Mm), ENSRNOG00000056524 (Rn)
UniProtKB AC	P33897 (Hs), P48410 (Mm)
Comment	Transports coenzyme A esters (CoA) of very long chain fatty acids (VLCFA) [6-7]. Pathogenic variants in ABCD1 (https://adrenoleukodystrophy.info/) result in adrenoleukodystrophy (OMIM: 300100) [3,5].

ALDR (ABCD2) C Show summary »« Hide summary

Target Id	789
Systematic nomenclature	ABCD2
Common abbreviation	ALDR
Previous and unofficial names	ALDL1 \| ALDR \| ALDRP \| adrenoleukodystrophy-related protein \| ATP-binding cassette, sub-family D (ALD), member 2 \| ABC39 \| ATP-binding cassette, subfamily D (ALD), member 2 \| ATP-binding cassette
Genes	ABCD2 (Hs), Abcd2 (Mm), Abcd2 (Rn)
Ensembl ID	ENSG00000173208 (Hs), ENSMUSG00000055782 (Mm), ENSRNOG00000015538 (Rn)
UniProtKB AC	Q9UBJ2 (Hs), Q61285 (Mm), Q9QY44 (Rn)
Comment	In vitro experiments indicate that ABCD2 has overlapping substrate specificity with ABCD1 towards saturated and monounsaturated very long-chain fatty acids, albeit at much lower specificity. ABCD2 has affinity for the polyunsaturated fatty acids C22:6-CoA and C24:6-CoA. However, in vivo proof for its true function is still lacking. No disease has yet been linked to a deficiency of ABCD2.

PMP70 (ABCD3) C Show summary »« Hide summary

Target Id	790
Systematic nomenclature	ABCD3
Common abbreviation	PMP70
Previous and unofficial names	70 kDa peroxisomal membrane protein \| PXMP1 \| ZWS2 \| ATP-binding cassette, sub-family D (ALD), member 3 \| PMP70, 70-kDa peroxisomal membrane protein \| Peroxisomal membrane protein 1 \| ATP-binding cassette, subfamily D (ALD), member 3 \| ATP-binding cassette
Genes	ABCD3 (Hs), Abcd3 (Mm), Abcd3 (Rn)
Ensembl ID	ENSG00000117528 (Hs), ENSMUSG00000028127 (Mm), ENSRNOG00000011929 (Rn)
UniProtKB AC	P28288 (Hs), P55096 (Mm), P16970 (Rn)
Comment	Transports long-chain dicarboxylic acids, branched-chain fatty acids and C27 bile acids DHC-CoA and THC-CoA [2]. In mitochondrial fatty acid deficient cells and mice, ABCD3 accepts medium and long-chain fatty acids

Comments

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References

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1. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M et al.. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet, 44 (10): 1152-5. [PMID:22922874]

2. Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O et al.. (2015) A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet, 24 (2): 361-70. [PMID:25168382]

3. Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. (2016) Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol, 12 (10): 606-15. [PMID:27312864]

4. Kemp S, Theodoulou FL, Wanders RJ. (2011) Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br J Pharmacol, 164 (7): 1753-66. [PMID:21488864]

5. Mallack EJ, Gao K, Engelen M, Kemp S. (2022) Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy. Cells, 11 (2). [PMID:35053399]

6. van Roermund CW, Visser WF, Ijlst L, van Cruchten A, Boek M, Kulik W, Waterham HR, Wanders RJ. (2008) The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J, 22 (12): 4201-8. [PMID:18757502]

7. van Roermund CW, Visser WF, Ijlst L, Waterham HR, Wanders RJ. (2011) Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. Biochim Biophys Acta, 1811 (3): 148-52. [PMID:21145416]

NC-IUPHAR subcommittee and family contributors

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How to cite this family page

Database page citation (select format):

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Gibb AJ, Kelly E, Mathie AA, Peach CJ, Veale EL, Armstrong JF, Faccenda E, Harding SD, Southan C, Davies JA et al. (2025) The Concise Guide to PHARMACOLOGY 2025/26: Transporters. Br J Pharmacol. 182: S404-S496.