SLC25A38 Chromosome 3
Solute carrier family 25 member 38
Upload your DNA to see your personal genotypes for variants in SLC25A38.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
3p22.1
Ensembl
ENSG00000144659
Associated Conditions (3)
Sideroblastic anemia 2
Inborn genetic diseases
SLC25A38-related disorder
Key Variants
RS121918331
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS139671810
Conflicting classifications of pathogenicity
Health Risk
RS142420345
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS144149294
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Inborn genetic diseases, Sideroblastic anemia 2
Health Risk
RS149992222
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS2125580580
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS368989667
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS369980078
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS531290475
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, SLC25A38-related disorder, Sideroblastic anemia 2
Health Risk
RS61995897
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS73058292
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS755205622
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2125582823 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS2125582841 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS2125582986 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS2125584589 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS2125584640 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS762067787 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS762562272 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS767156788 | Health Risk | Pathogenic | SLC25A38-related disorder, SLC25A38-related disorder |
| RS772425489 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS866266558 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS869312029 | Health Risk | Pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS146864395 | Health Risk | Pathogenic/Likely pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS147431446 | Health Risk | Pathogenic/Likely pathogenic | Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS869320719 | Health Risk | Pathogenic/Likely pathogenic | Sideroblastic anemia 2, SLC25A38-related disorder, Sideroblastic anemia 2 |