Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.

Abstract:

:Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by a progressive demyelination of the central nervous system and adrenal insufficiency. Clinical phenotypes of different severity are frequently observed within the same kindred. ALD is characterized biochemically by the accumulation of very-long-chain fatty acids (VLCFA) due to an impairment in the beta-oxidation of these fatty acids in peroxisome. From the observation that oxidation of VLCFA-CoA is normal in fibroblasts from patients with ALD, it was concluded that the gene coding for VLCFA-CoA synthetase was a candidate gene for ALD. Using positional cloning strategies, we have identified a gene which was found partially deleted in 7% of 85 independent patients with ALD. The predicted protein (ALDP) sequence shows significant homology to the 70-kDa peroxisomal membrane protein which is involved in peroxisome biogenesis and belongs to the 'ATP binding' superfamily of transporters. ALDP thus encodes a putative peroxisomal transporter molecule which may be involved in the import or anchoring of VLCFA-CoA synthetase.

journal_name

Biochimie

journal_title

Biochimie

authors

Aubourg P,Mosser J,Douar AM,Sarde CO,Lopez J,Mandel JL

doi

10.1016/0300-9084(93)90089-b

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

293-302

issue

3-4

eissn

0300-9084

issn

1638-6183

pii

0300-9084(93)90089-B

journal_volume

75

pub_type

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