FTH1 Chromosome 11
Ferritin heavy chain 1
Upload your DNA to see your personal genotypes for variants in FTH1.
What This Gene Does
This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ferritin chains
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000167996
Associated Conditions (2)
Neurodegeneration with brain iron accumulation 9
Hemochromatosis type 5
Key Variants
RS2541427837
Pathogenic
Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9
Health Risk
RS2541427923
Pathogenic
Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9
Health Risk
RS387906549
Pathogenic
Hemochromatosis type 5, Hemochromatosis type 5
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541427837 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9 |
| RS2541427923 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9 |
| RS387906549 | Health Risk | Pathogenic | Hemochromatosis type 5, Hemochromatosis type 5 |