Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.
The cDNA of the peroxisomal membrane protein-1-like protein (PXMP1-L, synonyms: PMP69, P70R), a novel peroxisomal ATP binding cassette transporter of yet unknown function, has recently been cloned. The best known peroxisomal member of this protein family is the adrenoleukodystrophy protein, defects of which are the underlying cause of X-linked adrenoleukodystrophy (X-ALD). Here we describe the complete exon-intron structure (19 exons and 18 introns covering 16.0 kb) of the human PXMP1-L gene, transcript variants, the localization on chromosome 14q24 by cytogenetic analysis and sequencing of the putative promoter region. PXMP1-L has been proposed to play a role as a modifier in determining the phenotypic variations observed in X-ALD. The data presented will enable sequence analysis of the PXMP1-L gene in X-ALD patients and facilitate the analysis of PXMP1-L function.
Holzinger
A
A
Dr. v. Hauner Children's Hospital, Ludwig-Maximilian-University, Department of Pediatrics, Munich, Germany. holzinger@kk-i.med.uni-muenchen.de
Roscher
A A
AA
Landgraf
P
P
Lichtner
P
P
Kammerer
S
S
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D017398:Alternative Splicing; D001483:Base Sequence; D002883:Chromosomes, Human, Pair 14; D005796:Genes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins / Q000235:genetics*; D008830:Microbodies / Q000378:metabolism*; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping
C063305:ABCD3 protein, human; C489273:ABCD4 protein, human; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D012333:RNA, Messenger