FTMT Gene - Ferritin Mitochondrial
Mitochondrial Ferritin: Iron Storage and Oxidative Stress Regulation
Gene Information Card
| Symbol | FTMT |
|---|---|
| Full Name | Ferritin Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 94033 ncbi.nlm.nih.gov/gene/94033 |
| Ensembl ID | ENSG00000181856 |
| UniProt ID | Q8N4E1 |
| OMIM ID | 608847 |
| HGNC ID | 17345 |
| Aliases | MFRN, MFT |
Description
FTMT encodes the mitochondrial ferritin, an iron-storage protein localized to mitochondria. It sequesters excess iron in a non-toxic form, protecting mitochondria from oxidative damage. Unlike cytosolic ferritin, FTMT is not regulated by iron-responsive elements and is highly expressed in tissues with high metabolic activity. Dysregulation is linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Mitochondrial iron overload due to FTMT deficiency leads to oxidative stress and neuronal death. | OMIM, ClinVar |
| Huntington disease | Altered FTMT expression contributes to mitochondrial iron dyshomeostasis and neurodegeneration. | NCBI, PubMed |
| Friedreich ataxia | Reduced FTMT levels exacerbate mitochondrial iron accumulation and frataxin deficiency. | OMIM, PubMed |
| Cancer (various) | FTMT overexpression in certain tumors may promote cell survival by reducing oxidative stress. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| SH-SY5Y | 7.8 | Neuronal model |
| HepG2 | 5.2 | Hepatocellular carcinoma |
| K562 | 3.4 | Erythroleukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.98C>T (p.Thr33Ile) | Missense | <0.01% | Unknown significance |
| c.442G>A (p.Gly148Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Reduced iron storage capacity, mitochondrial iron overload, oxidative stress.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ferroxidase activity (GO:0004322) | • cellular iron ion homeostasis (GO:0006879) |
| • mitochondrion (GO:0005739) | • ferric iron binding (GO:0008199) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Iron metabolism (Reactome: R-HSA-917937)
• Mitochondrial iron-sulfur cluster biogenesis (Reactome: R-HSA-1369007)
Protein Summary
Mitochondrial ferritin is a 242-amino acid protein that forms a spherical shell capable of storing up to 4500 iron atoms in a soluble, non-toxic form. It possesses ferroxidase activity, converting Fe2+ to Fe3+ for incorporation into the mineral core. The protein is synthesized in the cytoplasm and imported into mitochondria, where it protects against iron-mediated oxidative damage. Its expression is highest in testis, heart, and brain, and it is not regulated by iron-responsive elements, distinguishing it from cytosolic ferritins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FTMT Knockout HEK293 Cell Line | EDJ-KQ11274 | Human | 94033 | Details Get a Quote |
| FTMT Knockout HeLa Cell Line | EDJ-KQ57879 | Human | 94033 | Details Get a Quote |
| FTMT Knockout A-549 Cell Line | EDJ-KQ66375 | Human | 94033 | Details Get a Quote |
| FTMT Knockout HCT 116 Cell Line | EDJ-KQ74798 | Human | 94033 | Details Get a Quote |
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