Gene Symbol | SLC25A38 |
Entrez Gene ID | 54977 |
Full Name | solute carrier family 25 member 38 |
Synonyms | SIDBA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3) |