Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 20-03-2009

Symbol	ASAT
Location	Xq13.3
Name	anemia, sideroblastic, and spinocerebellar ataxia
Corresponding gene	ABCB7
Main clinical features	characterized by mild anemia with hypochromia and microcytosis associated to an early onset non progressive cerebellar ataxia
Genetic determination	sex linked
Function/system disorder	hematology
Type	disease

Gene product

Name	ATP binding cassette (ABCB7)

Remark(s)

loss of function mutations in ABCB7 directly or indirectly inhibit heme biosynthesis (PMID: 17192398)) mutation disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation (PMID: 16892088)) disease-causing mutations are in transmembrane segments, indicating the importance of transmembrane segments to ABCB7 function (PMID: 20481466))