ABCB7

ABCB7 is a gene in humans that encodes a protein belonging to the ATP-binding cassette (ABC) transporter superfamily. The ABCB7 protein is involved in iron metabolism, playing a crucial role in the transport of iron-sulfur (Fe/S) clusters. Mutations in the ABCB7 gene are associated with X-linked sideroblastic anemia and ataxia (XLSA/A).

Function

The ABC transporter proteins transport various molecules across extra- and intra-cellular membranes. The ABCB7 protein, encoded by the ABCB7 gene, is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is located in the mitochondria and is involved in iron homeostasis. It is thought to play a role in the transport of heme from the mitochondria to the cytosol. With a varying degree of anemia, ataxia, or ataxia and i(12)(p10), mutations in this gene have been associated with X-linked sideroblastic anemia and ataxia (XLSA/A).

Clinical significance

Mutations in the ABCB7 gene are associated with X-linked sideroblastic anemia and ataxia (XLSA/A), a rare disorder characterized by mild anemia and early-onset ataxia. The anemia is typically macrocytic and hypochromic, and the ataxia is progressive and affects gait and limb coordination. Other features of XLSA/A can include mild learning disabilities, mild hypotonia, and increased susceptibility to infections.

See also

• ATP-binding cassette transporter
• X-linked sideroblastic anemia

References

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External links

• ABCB7 at the US National Library of Medicine Medical Subject Headings (MeSH)