ABCMdb

PMID: 12530690

Gartner J, Dehmel T, Klusmann A, Roerig P
Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Endocr Res. 2002 Nov;28(4):741-8., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCD1 p.Pro560Leu ABCD1 p.Gly512Ser ABCD1 p.Ser606Leu ABCD1 p.Arg591Gln ABCD1 p.Gln544Arg ABCD3 p.Ser572Ile ABCD3 p.Gly478Arg ABCD1 p.Asp629His The mutant constructs included missense mutations of patients with X-ALD in the nucleotide binding fold regions Walker A and 19mer (ALDP-NBF-G512S, ALDP-NBF-Q544R, ALDP-NBF-P560L, ALDP-NBF-R591Q, ALDP-NBF-S606L, and ALDP-NBF-D629H) and corresponding mutations in another ABC transporter in the peroxisome membrane, the 70 kDa peroxisomal membrane protein (PMP70; PMP70-NBF-G478R, PMP70- NBF-S572I). Login to comment 59 ABCD1 p.Gly512Ser This material may not be used or reproduced in any form without the express written permission of Marcel Dekker, Inc. MARCEL DEKKER, INC. • 270 MADISON AVENUE • NEW YORK, NY 10016 EndocrResDownloadedfrominformahealthcare.combyUniversityofNorthCarolinaon03/06/12 patient mutation G512S in the ALD gene reduces considerable ATPase activity. Login to comment 60 ABCD1 p.Ser606Leu In contrast, the patient mutation S606L alters ATP binding affinity but has no effect on the overall ATPase activity. Login to comment 63 ABCD3 p.Ser572Ile ABCD3 p.Gly478Arg The mutation S572I in the PMP70 gene reduces considerable ATPase activity where as the mutation G478R alters ATP-binding affinity. Login to comment 79 ABCD1 p.Gly512Ser The missense mutations of the first group like G512S in the ALD gene reduce considerable ATPase activity. Login to comment 81 ABCD1 p.Ser606Leu In contrast, missense mutations included in the second group like S606L in the ALD gene reduce ATP-binding but do not have any effect on the overall ATPase activity. Login to comment 85 ABCD1 p.Pro484Arg A striking example of this is a family with a P484R mutation in the ALD gene. Login to comment