FTH1 ferritin heavy chain 1
Gene ID: 2495, updated on 27-Nov-2024Gene type: protein coding
Also known as: FHC; FTH; HFE5; PLIF; FTHL6; NBIA9; PIG15
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- Go to complete Gene record for FTH1
- Go to Variation Viewer for FTH1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. GeneReviews: Not available | |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Hemochromatosis type 5 | See labs |
| Neurodegeneration with brain iron accumulation 9 | not available |
Genomic context
- Location:
- 11q12.3
- Sequence:
- Chromosome: 11; NC_000011.10 (61964285..61967634, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FTH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FTH1 @ LOVD
- 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
- Variation ViewerRelated Variants
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