Gene : ABCD1

Symbol :	ABCD1
Name/description :	ATP-binding cassette, sub-family D (ALD), member 1
Synonyms :	ALD, AMN, ALDP, ABC42
Organism :	Homo sapiens
Peroxisomal Localization :	GO: peroxisomal membrane J Mosser, et al.1993. Nature Lodewijk Visser, et al.2008. FASEB J. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	ABCD
Protein consensus sequence :	PEX19=4.4e-005; start position=69; end position=78; MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGVAAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHEVELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSESDAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIPIVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCDWKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGLQGAST
Functional category(ies) :	ABC transporters Di- trihydroxycholestanoic acid oxidation/Bile acid synthesis Fatty acid oxidation Fatty acid synthesis/PUFAS synthesis Lipid metabolism Peroxisomal membrane proteins (PMP) Straight chain fatty acids oxidation
Disease(s) :	X-linked adrenoleukodystrophy Contiguous ABCD1/DXS1375E deletion syndrome
Comparative genomics:	PTS prediction Blastp PsiBlast Alignment Phylogenetic tree [help] PhylomeDB
Gene Info:	Gene Summary (NCBI) Genome Browser (UCSC) Chromosomal Localization (NCBI) ENSEMBL SNPs (NCBI) Intron/Exon (Ace View: NCBI) Gene Expression (UCSC) Protein Properties (UCSC) Conserved Domains (NCBI) Orthologue Prediction (NCBI)
Pubmed:	Lodewijk Visser, et al.2008. FASEB J. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. M Engelen, et al.2008. Biochim. Biophys. Acta Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. Charles Peters, et al.2004. Blood Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. S Kemp, et al.2001. Hum. Mutat. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. S Braiterman, et al.1998. Hum. Mol. Genet. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. F Watkins, et al.1995. Am. J. Hum. Genet. Altered expression of ALDP in X-linked adrenoleukodystrophy. J Mosser, et al.1993. Nature Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.