RGD Reference Report - Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). - Rat Genome Database

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Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Authors: Allikmets, R  Raskind, WH  Hutchinson, A  Schueck, ND  Dean, M  Koeller, DM 
Citation: Allikmets R, etal., Hum Mol Genet. 1999 May;8(5):743-9.
RGD ID: 1598600
Pubmed: PMID:10196363   (View Abstract at PubMed)

X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ABCB7HumanX-linked sideroblastic anemia with ataxia susceptibilityIAGP DNA:missense mutation: :p.I400M (human)RGD 
Abcb7RatX-linked sideroblastic anemia with ataxia susceptibilityISOABCB7 (Homo sapiens)DNA:missense mutation: :p.I400M (human)RGD 
Abcb7MouseX-linked sideroblastic anemia with ataxia susceptibilityISOABCB7 (Homo sapiens)DNA:missense mutation: :p.I400M (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Abcb7  (ATP binding cassette subfamily B member 7)

Genes (Mus musculus)
Abcb7  (ATP-binding cassette, sub-family B member 7)

Genes (Homo sapiens)
ABCB7  (ATP binding cassette subfamily B member 7)


Additional Information