PMID: 20626744

Kemp S, Wanders R
Biochemical aspects of X-linked adrenoleukodystrophy.
Brain Pathol. 2010 Jul;20(4):831-7., [PubMed]
Sentences
No. Mutations Sentence Comment
47 ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 20626744:47:426
status: NEW
view ABCD1 p.Gly512Ser details
ABCD1 p.Ser606Leu
X
ABCD1 p.Ser606Leu 20626744:47:385
status: NEW
view ABCD1 p.Ser606Leu details
 ALDP is an integral peroxisomal membrane protein with the nucleotide-binding domain located toward the cytoplasmic surface of the peroxisomal membrane (14).ATP-binding andATPase activity has been demonstrated for ALDP (71), and Roerig et al demonstrated that two disease causing missense mutations located in the ATP-binding domain resulted in either decreased ATP-binding capacity (p.Ser606Leu) or reduced ATPase activity (p.Gly512Ser) (64). Login to comment