Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis.
Pondarre
Corinne
C
Department of Pathology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA.
Campagna
Dean R
DR
Antiochos
Brendan
B
Sikorski
Lindsay
L
Mulhern
Howard
H
Fleming
Mark D
MD
D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000756:Anemia, Sideroblastic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000818:Animals; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006410:Hematopoiesis / Q000235:genetics*; D006418:Heme / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism / Q000648:ultrastructure; D009154:Mutation; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
C113037:ABCB7 protein, human; D018528:ATP-Binding Cassette Transporters; D006418:Heme