PMID: 22884976

Liesa M, Qiu W, Shirihai OS
Mitochondrial ABC transporters function: the role of ABCB10 (ABC-me) as a novel player in cellular handling of reactive oxygen species.
Biochim Biophys Acta. 2012 Oct;1823(10):1945-57. doi: 10.1016/j.bbamcr.2012.07.013. Epub 2012 Aug 3., [PubMed]
Sentences
No. Mutations Sentence Comment
96 ABCB7 p.Glu433Lys
X
ABCB7 p.Glu433Lys 22884976:96:62
status: NEW
view ABCB7 p.Glu433Lys details
ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 22884976:96:113
status: NEW
view ABCB7 p.Val411Leu details
 The heritage family study shows that the amino acid change of E433K at the C-terminal of the sixth TMD [9,70] or V411L at the beginning of the sixth TMD in ABCB7 is sufficient to cause XLSA/A [56]. Login to comment