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 trans porter of yet unknown function, has recently been cloned, The best kno wn peroxisomal member of this protein family is the adrenoleukodystrop hy protein, defects of which are the underlying cause of X-linked adre noleukodystrophy (S-ALD). Here we describe the complete exon-intron st ructure (19 exons and 18 introns covering 16.0 kb) of the human PXMP1- L gene, transcript variants, the localization on chromosome 14q24 by c ytogenetic analysis and sequencing of the putative promoter region. PX MP1-L has been proposed to play a role as a modifier in determining th e phenotypic variations observed in X-ALD. The data presented nib enab le sequence analysis of the PXMP1-L gene in X-ALD patients and facilit ate the analysis of PXMP1-L function. (C) 1998 Federation of European Biochemical Societies.