ABCB7

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 (PubMed:10196363, PubMed:17192393, PubMed:33157103). 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 (PubMed:30765471). In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity). May also play a role in hematopoiesis (By similarity).

Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia

SCAX6

An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.

• Mitochondrion inner membrane
• Multi-pass membrane protein

ABC7, ABCB7, ATP-binding cassette transporter 7, ABC transporter 7 protein

• entrezGene:22
• omim:300135
• swissprot:O75027

Proteins

Metabolism

82641Da