PMID: 17973979

Kim WS, Weickert CS, Garner B
Role of ATP-binding cassette transporters in brain lipid transport and neurological disease.
J Neurochem. 2008 Mar;104(5):1145-66. Epub 2007 Oct 31., [PubMed]
Sentences
No. Mutations Sentence Comment
208 ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 17973979:208:57
status: NEW
view ABCD1 p.Gly512Ser details
ABCD1 p.Ser606Leu
X
ABCD1 p.Ser606Leu 17973979:208:43
status: NEW
view ABCD1 p.Ser606Leu details
 Two ABCD1 mutations associated with X-ALD (Ser606Leu and Gly512Ser) result in decreased ATP binding and reduced ATPase activity, respectively, thereby indicating that an energy dependent transport activity is crucial to the function of ABCD1 (Roerig et al. 2001). Login to comment 212 ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 17973979:212:57
status: NEW
view ABCD1 p.Gly512Ser details
ABCD1 p.Ser606Leu
X
ABCD1 p.Ser606Leu 17973979:212:43
status: NEW
view ABCD1 p.Ser606Leu details
 Two ABCD1 mutations associated with X-ALD (Ser606Leu and Gly512Ser) result in decreased ATP binding and reduced ATPase activity, respectively, thereby indicating that an energy dependent transport activity is crucial to the function of ABCD1 (Roerig et al. 2001). Login to comment