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Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.

ABSTRACT: 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.

SUBMITTER: Pondarre C

PROVIDER: S-EPMC1852240 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature

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Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.

Pondarre Corinne C Campagna Dean R DR Antiochos Brendan B Sikorski Lindsay L Mulhern Howard H Fleming Mark D MD

Blood 20061227 8

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. ...[more]

PMID: 17192398

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