Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis. Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis. In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1. May also play a role in hematopoiesis.
|Gene References into Functions
- data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts PMID: 27211273
- A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. PMID: 26242992
- findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation PMID: 23070040
- We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene PMID: 22398176
- loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13. PMID: 21380928
- ABCB7 may have a role in refractory anemia with ring sideroblasts PMID: 18398482
|Involvement in disease
||Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
||Mitochondrion inner membrane; Multi-pass membrane protein.
||ABC transporter superfamily, ABCB family, Heavy Metal importer (TC 3.A.1.210) subfamily