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ATP Binding Cassette Transporter D1 (ABCD1)

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

ATP Binding Cassette Transporter D1 (ABCD1)
CCC A341
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA341Hu01 Recombinant ATP Binding Cassette Transporter D1 (ABCD1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA341Hu01 Polyclonal Antibody to ATP Binding Cassette Transporter D1 (ABCD1) WB; IHC; ICC; IP.
Assay Kits SEA341Hu ELISA Kit for ATP Binding Cassette Transporter D1 (ABCD1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA341Mu01 Recombinant ATP Binding Cassette Transporter D1 (ABCD1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to ATP Binding Cassette Transporter D1 (ABCD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATP Binding Cassette Transporter D1 (ABCD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATP Binding Cassette Transporter D1 (ABCD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATP Binding Cassette Transporter D1 (ABCD1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATP Binding Cassette Transporter D1 (ABCD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATP Binding Cassette Transporter D1 (ABCD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATP Binding Cassette Transporter D1 (ABCD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATP Binding Cassette Transporter D1 (ABCD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATP Binding Cassette Transporter D1 (ABCD1) ELISA Kit Customized Service Offer
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  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."J. Biol. Chem. 274:32738-32743(1999) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis."Biochimie 75:293-302(1993) [PubMed] [Europe PMC] [Abstract]
  7. "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]
  8. "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]
  9. "Mutations in the adrenoleukodystrophy gene."Hum. Mutat. 9:500-511(1997) [PubMed] [Europe PMC] [Abstract]
  10. "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]
  11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  12. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "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]
  16. "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."Hum. Mol. Genet. 3:1903-1905(1994) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene."J. Clin. Invest. 94:516-520(1994) [PubMed] [Europe PMC] [Abstract]
  18. "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."Am. J. Hum. Genet. 56:44-50(1995) [PubMed] [Europe PMC] [Abstract]
  19. "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]
  20. "Mutational analysis of patients with X-linked adrenoleukodystrophy."Hum. Mutat. 6:104-115(1995) [PubMed] [Europe PMC] [Abstract]
  21. "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]
  22. "Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy."Hum. Genet. 97:194-197(1996) [PubMed] [Europe PMC] [Abstract]
  23. "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]
  24. "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]
  25. "Two novel missense mutations causing adrenoleukodystrophy in Italian patients."Mol. Cell. Probes 13:179-182(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described."Hum. Mutat. 15:348-353(2000) [PubMed] [Europe PMC] [Abstract]
  27. "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]
  28. "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]
  29. "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]
  30. "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]
  31. "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]
  32. "Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."Clin. Chim. Acta 412:2289-2295(2011) [PubMed] [Europe PMC] [Abstract]
  33. "X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism."Mol. Genet. Metab. 104:160-166(2011) [PubMed] [Europe PMC] [Abstract]