rs192343321
This variant is located in the FECH gene.
▶ClinVar annotation
About FECH
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]
View all FECH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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