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Genomic organization and chromosomal localization of the human peroxisomal membrane protein‐1‐like protein (PXMP1‐L) gene encoding a peroxisomal ABC transporter 1
Author(s) -
Holzinger Andreas,
Roscher Adelbert A,
Landgraf Pablo,
Lichtner Peter,
Kammerer Stefan
Publication year - 1998
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(98)00354-8
Subject(s) - peroxisome , gene , peroxisomal targeting signal , atp binding cassette transporter , transport protein , membrane protein , membrane transport protein , biology , transporter , genetics , microbiology and biotechnology , chemistry , biochemistry , membrane
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.