anaemia sideroblastic and spinocerebellar ataxia

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anaemia sideroblastic and spinocerebellar ataxia2016-11-08T19:22:29+00:00

anaemia sideroblastic and spinocerebellar ataxia

HAEMATOLOGY, NEUROLOGY

Definition An X-linked recessive disorder (OMIM:301310) characterised by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild hypochromic and microcytic anaemia.

Molecular pathology Defects of ABCB7, which encodes an ATP-binding cassette (ABC) transporter that plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins, cause anaemia—sideroblastic—and spinocerebellar ataxia  

References http://www.uniprot.org/uniprot/O75027

http://www.omim.org/entry/301310 

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