Genomic organization and chromosomal localization of the human peroxisomal membrane protein‐1‐like protein (PXMP1‐L) gene encoding a peroxisomal ABC transporter

FEBS Letters

Holzinger, Andreas¹  Roscher, Adelbert A¹  Lichtner, Peter²  Kammerer, Stefan¹  Landgraf, Pablo¹ 

[1]Dr. v. Hauner Children's Hospital, Ludwig-Maximilian-University, Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Lindwurmstrasse 4, 80337 Munich, Germany

[2]Department of Pediatric Genetics, Ludwig-Maximilian-University, Goethestrasse 29, 80336 Munich, Germany

关键词: ABC transporter;    Peroxisome;    Very long chain fatty acid;   

DOI  :  10.1016/S0014-5793(98)00354-8

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown