Pathophysiology and genetic mutations in congenital sideroblastic anemia.
Sendai, Japan. In Pediatr Int, 2013
Other known etiologies include mutations in the erythroid specific mitochondrial transporter (SLC25A38), adenosine triphosphate (ATP) binding cassette B7 (ABCB7), glutaredoxin 5 (GLRX5), thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase (PUS1), and mitochondrial tyrosyl-tRNA synthase (YARS2), as well as mitochondrial DNA deletions.
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Milano, Italy. In Semin Hematol, 2009
As recently occurred with the discovery of the SLC25A38-related sideroblastic anemia, the identification of the genes responsible for as yet uncharacterized forms will provide further insights into mitochondrial iron metabolism of erythroid cells and the pathophysiology of sideroblastic anemia.
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
Uppsala, Sweden. In Genomics, 2006
These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, and SLC25A46.