Document Detail

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
MedLine Citation:
PMID:  17192398     Owner:  NLM     Status:  MEDLINE    
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.
Corinne Pondarre; Dean R Campagna; Brendan Antiochos; Lindsay Sikorski; Howard Mulhern; Mark D Fleming
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2006-12-27
Journal Detail:
Title:  Blood     Volume:  109     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-05     Completed Date:  2007-05-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3567-9     Citation Subset:  AIM; IM    
Department of Pathology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*,  metabolism
Anemia, Sideroblastic / genetics*,  metabolism,  pathology
Genetic Diseases, X-Linked / genetics*,  metabolism,  pathology
Hematopoiesis / genetics*
Heme / biosynthesis,  genetics
Mice, Knockout
Mitochondria / genetics,  metabolism,  ultrastructure
Spinocerebellar Ataxias / genetics*,  metabolism,  pathology
Grant Support
Reg. No./Substance:
0/ABCB7 protein, human; 0/ATP-Binding Cassette Transporters; 14875-96-8/Heme

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