SLC25A38 solute carrier family 25 member 38
Gene ID: 54977, updated on 4-Jan-2025Gene type: protein coding
Also known as: SIDBA2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A38
- Go to Variation Viewer for SLC25A38 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Sideroblastic anemia 2 | See labs |
Genomic context
- Location:
- 3p22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (39383370..39397351)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A38 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC25A38 database
- Variation ViewerRelated Variants
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