ABCMdb

PMID: 21488864

Kemp S, Theodoulou FL, Wanders RJ
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
Br J Pharmacol. 2011 Dec;164(7):1753-66. doi: 10.1111/j.1476-5381.2011.01435.x., [PubMed]

Sentences

No. Mutations Sentence Comment

162 ABCD1 p.Leu78Phe For example, the missense mutation p.Leu78Phe significantly reduced the targeting efficiency and an in-frame deletion of three amino acids (p.Arg80_Leu82del) resulted in the mislocalization of ALDP to the nucleus, cytosol and mitochondria (Landgraf et al., 2003). Login to comment 163 ABCD1 p.Tyr174Cys The finding that the missense mutation p.Tyr174Cys, which is located in the region between the transmembrane segments 2 and 3 of ALDP, resulted in mistargeting of ALDP to other organelles indicates that this region is also important for the targeting of ALDP to the peroxisome (Takahashi et al., 2007). Login to comment 259 ABCD1 p.Gly512Ser ABCD1 p.Ser606Leu Two X-ALD causing missense mutations located in the ATP-binding domain of ALDP resulted in either decreased ATP-binding capacity (p.Ser606Leu) or reduced ATPase activity (p.Gly512Ser), when analysed in the context of recombinant nucleotide binding domains (Roerig et al., 2001). Login to comment