ATP Binding Cassette Transporter D1 (ABCD1)

ABC-D1; ABC42; ALD; ALDP; AMN; Adrenoleukodystrophy protein; ATP-Binding Cassette,Subfamily D(ALD)Member 1

SPN	T833
HGNC	61
MGI	1349215
PubMed	11748843
RGD	1562128
UniProt	P33897
Wiki	ABCD1

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. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids.

Reference

"Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters."
Nature 361:726-730(1993) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."
J. Biol. Chem. 274:32738-32743(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters."
FEBS Lett. 492:66-72(2001) [PubMed] [Europe PMC] [Abstract]

"Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis."
Biochimie 75:293-302(1993) [PubMed] [Europe PMC] [Abstract]

"Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."
Biochem. Biophys. Res. Commun. 271:144-150(2000) [PubMed] [Europe PMC] [Abstract]

"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the adrenoleukodystrophy gene."
Hum. Mutat. 9:500-511(1997) [PubMed] [Europe PMC] [Abstract]

"ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
Hum. Mutat. 18:499-515(2001) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy."
Hum. Mol. Genet. 2:1949-1951(1993) [PubMed] [Europe PMC] [Abstract]

"Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."
Hum. Mol. Genet. 3:1903-1905(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene."
J. Clin. Invest. 94:516-520(1994) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."
Am. J. Hum. Genet. 56:44-50(1995) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes."
Am. J. Hum. Genet. 56:854-861(1995) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of patients with X-linked adrenoleukodystrophy."
Hum. Mutat. 6:104-115(1995) [PubMed] [Europe PMC] [Abstract]

"Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy."
Am. J. Hum. Genet. 58:1135-1144(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy."
Hum. Genet. 97:194-197(1996) [PubMed] [Europe PMC] [Abstract]

"First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy."
Hum. Mutat. Suppl. 1:S204-S206(1998) [PubMed] [Europe PMC] [Abstract]

"X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."
Hum. Genet. 105:116-119(1999) [PubMed] [Europe PMC] [Abstract]

"Two novel missense mutations causing adrenoleukodystrophy in Italian patients."
Mol. Cell. Probes 13:179-182(1999) [PubMed] [Europe PMC] [Abstract]

"Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described."
Hum. Mutat. 15:348-353(2000) [PubMed] [Europe PMC] [Abstract]

"Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations."
Hum. Mutat. 16:271-271(2000) [PubMed] [Europe PMC] [Abstract]

"Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange."
Hum. Mutat. 18:52-60(2001) [PubMed] [Europe PMC] [Abstract]

"Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP."
Hum. Genet. 109:616-622(2001) [PubMed] [Europe PMC] [Abstract]

"Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders."
Am. J. Hum. Genet. 70:1520-1531(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy."
Hum. Mutat. 25:222-222(2005) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."
Clin. Chim. Acta 412:2289-2295(2011) [PubMed] [Europe PMC] [Abstract]

"X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism."
Mol. Genet. Metab. 104:160-166(2011) [PubMed] [Europe PMC] [Abstract]