SLC25A37
Mitochondrial iron transporter (Mitoferrin-1)
Gene Information Card
| Symbol | SLC25A37 |
|---|---|
| Full Name | Solute carrier family 25 member 37 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 51312 ncbi.nlm.nih.gov/gene/51312 |
| Ensembl ID | ENSG00000147454 |
| UniProt ID | Q9NYZ3 |
| OMIM ID | 610387 |
| HGNC ID | 29786 |
| Aliases | MFRN1, MFRN, PRO1278, MSC |
Description
SLC25A37 encodes mitoferrin-1 (MFRN1), a mitochondrial inner membrane protein that functions as a high-affinity iron importer essential for heme biosynthesis and iron-sulfur cluster assembly. It is highly expressed in erythroid cells and is critical for erythropoiesis. Mutations in SLC25A37 cause autosomal recessive sideroblastic anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sideroblastic anemia, autosomal recessive | Loss-of-function mutations impair mitochondrial iron import, leading to defective heme synthesis and ring sideroblasts | OMIM #610387; ClinVar |
| Erythropoietic protoporphyria (secondary) | Iron deficiency in mitochondria disrupts heme pathway, causing protoporphyrin accumulation | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Spleen | 8.3 | Medium |
| Liver | 3.1 | Low |
| Testis | 2.8 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression; model for erythropoiesis |
| HEK293 | 0.8 | Low expression |
| HepG2 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335C>T (p.Thr112Ile) | Missense | Rare | Loss of iron transport activity; associated with sideroblastic anemia |
| c.430G>A (p.Gly144Arg) | Missense | Rare | Impaired mitochondrial localization; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., Thr112Ile, Gly144Arg) reduce or abolish mitochondrial iron import, leading to heme deficiency and anemia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015232 - iron ion transmembrane transporter activity | • GO:0005739 - mitochondrion |
| • GO:0005743 - mitochondrial inner membrane | • GO:0006826 - iron ion transport |
| • GO:0006879 - cellular iron ion homeostasis | • GO:0033572 - iron-sulfur cluster assembly |
| • GO:0006783 - heme biosynthetic process |
Pathways
• Heme biosynthesis (Reactome: R-HSA-189451)
• Iron uptake and transport (Reactome: R-HSA-917937)
Protein Summary
Mitoferrin-1 (MFRN1) is a 36 kDa mitochondrial inner membrane protein with six transmembrane domains. It forms a homodimer and functions as a specific iron (Fe2+) transporter. The protein is essential for delivering iron to ferrochelatase for heme synthesis and to the iron-sulfur cluster assembly machinery. It is highly expressed in erythroid precursors and regulated by GATA1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A37 Knockout HEK293 Cell Line | EDJ-KQ11040 | Human | 51312 | Details Get a Quote |
| SLC25A37 Knockout A-549 Cell Line | EDJ-KQ38942 | Human | 51312 | Details Get a Quote |
| SLC25A37 Knockout HCT 116 Cell Line | EDC07724 | Human | 51312 | Details Get a Quote |
| SLC25A37 Knockout HeLa Cell Line | EDJ-KQ38944 | Human | 51312 | Details Get a Quote |
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