FECH Chromosome 18
Ferrochelatase
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What This Gene Does
The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
Associated Conditions (9)
Protoporphyria
erythropoietic
1
See cases
Inborn genetic diseases
FECH-related disorder
Erythema
Jaundice
Autosomal erythropoietic protoporphyria
Key Variants
RS141813907
Conflicting classifications of pathogenicity
Protoporphyria, erythropoietic, 1
Health Risk
RS144831860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150830931
Conflicting classifications of pathogenicity
Health Risk
RS2050849085
Conflicting classifications of pathogenicity
FECH-related disorder, Protoporphyria, erythropoietic
Health Risk
RS2269219
Conflicting classifications of pathogenicity
Protoporphyria, erythropoietic, 1
Health Risk
RS2272783
Conflicting classifications of pathogenicity
Protoporphyria, erythropoietic, 1
Health Risk
RS2511528572
Conflicting classifications of pathogenicity
Health Risk
RS765069812
Conflicting classifications of pathogenicity
Protoporphyria, erythropoietic, 1
Health Risk
RS1205361096
Likely pathogenic
Health Risk
RS1206108637
Likely pathogenic
Health Risk
RS1599003455
Likely pathogenic
Protoporphyria, erythropoietic, 1
Health Risk
RS2051380165
Likely pathogenic
Autosomal erythropoietic protoporphyria, Autosomal erythropoietic protoporphyria
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205245 | Health Risk | Pathogenic | Protoporphyria, erythropoietic, 1 |
| RS786205246 | Health Risk | Pathogenic | Protoporphyria, erythropoietic, 1 |
| RS786205247 | Health Risk | Pathogenic | Protoporphyria, erythropoietic, 1 |
| RS786205248 | Health Risk | Pathogenic | Protoporphyria, erythropoietic, 1 |
| RS879255507 | Health Risk | Pathogenic | Protoporphyria, erythropoietic, 1 |
| RS980047540 | Health Risk | Pathogenic | — |
| RS1198671446 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |
| RS150146721 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |
| RS202147607 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |
| RS370708663 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |
| RS764466739 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |
| RS984041251 | Health Risk | Pathogenic/Likely pathogenic | Protoporphyria, erythropoietic, 1 |