FTL Chromosome 19
Ferritin light chain
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What This Gene Does
This gene encodes the light subunit of the ferritin protein. Ferritin is 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 this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ferritin chains
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000087086
Associated Conditions (9)
Neuroferritinopathy
Hereditary hyperferritinemia with congenital cataracts
L-ferritin deficiency
sporadic abdominal aortic aneurysm
FTL-related disorder
Inborn genetic diseases
L-FERRITIN DEFICIENCY
AUTOSOMAL RECESSIVE
See cases
Key Variants
RS11553228
Conflicting classifications of pathogenicity
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
Health Risk
RS139732572
Conflicting classifications of pathogenicity
L-ferritin deficiency, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
Health Risk
RS1555796994
Conflicting classifications of pathogenicity
Health Risk
RS201241191
Conflicting classifications of pathogenicity
sporadic abdominal aortic aneurysm, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
Health Risk
RS373178636
Conflicting classifications of pathogenicity
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
Health Risk
RS543242420
Conflicting classifications of pathogenicity
Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Inborn genetic diseases
Health Risk
RS769222073
Conflicting classifications of pathogenicity
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
Health Risk
RS769449169
Conflicting classifications of pathogenicity
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Inborn genetic diseases
Health Risk
RS1555797129
Likely pathogenic
Health Risk
RS2122429764
Likely pathogenic
Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
Health Risk
RS2122429855
Likely pathogenic
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
Health Risk
RS398124638
Likely pathogenic
Hereditary hyperferritinemia with congenital cataracts, L-ferritin deficiency, Neuroferritinopathy
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11553228 | Health Risk | Conflicting classifications of pathogenicity | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS139732572 | Health Risk | Conflicting classifications of pathogenicity | L-ferritin deficiency, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS1555796994 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201241191 | Health Risk | Conflicting classifications of pathogenicity | sporadic abdominal aortic aneurysm, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS373178636 | Health Risk | Conflicting classifications of pathogenicity | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS543242420 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Inborn genetic diseases |
| RS769222073 | Health Risk | Conflicting classifications of pathogenicity | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS769449169 | Health Risk | Conflicting classifications of pathogenicity | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Inborn genetic diseases |
| RS1555797129 | Health Risk | Likely pathogenic | — |
| RS2122429764 | Health Risk | Likely pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS2122429855 | Health Risk | Likely pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS398124638 | Health Risk | Likely pathogenic | Hereditary hyperferritinemia with congenital cataracts, L-ferritin deficiency, Neuroferritinopathy |
| RS398124640 | Health Risk | Likely pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS104894685 | Health Risk | Pathogenic | Neuroferritinopathy, Neuroferritinopathy |
| RS1114167274 | Health Risk | Pathogenic | Neuroferritinopathy, Neuroferritinopathy |
| RS1555796939 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts |
| RS1600120873 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS199869995 | Health Risk | Pathogenic | L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE, Inborn genetic diseases |
| RS2038438402 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS2122436083 | Health Risk | Pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS2513694164 | Health Risk | Pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS2513696390 | Health Risk | Pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS398124633 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS398124634 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts |
| RS398124636 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, L-ferritin deficiency |
| RS398124639 | Health Risk | Pathogenic | Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts |
| RS587776840 | Health Risk | Pathogenic | Neuroferritinopathy, Neuroferritinopathy |
| RS773435099 | Health Risk | Pathogenic | — |
| RS2038438612 | Health Risk | Pathogenic/Likely pathogenic | Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS2122436225 | Health Risk | Pathogenic/Likely pathogenic | Neuroferritinopathy, Neuroferritinopathy |
| RS397514540 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS398124635 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, FTL-related disorder |
| RS398124637 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |