LP97931-7
FECH gene
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Descriptions
In most patients with erythropoietic protoporphyria (EPP), a pathogenic FECH mutation that reduces enzyme activity by 50% can be identified on only 1 allele. Clinical expression of EPP typically requires a hypomorphic (low expression) FECH allele (IVS3-48T->C) in trans (on a different chromosome) with the mutation. IVS3-48T->C is a variant of the FECH gene associated with reduced gene expression. This variant is found in approximately 10% of the general Caucasian population. Autosomal recessive inheritance (2 pathogenic mutations in trans) is infrequent, accounting for <4% of EPP cases. In contrast to patients with 1 pathogenic mutation and the low-expression allele, missense mutations are far more common than null mutations. Copyright Copyright © 1995-2009 Source: Mayo Medical Laboratories
The FECH gene (ferrochelatase) [HGNC Gene ID:3647] is located on chromosome 18q21.3. 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] [NCBI Gene ID:2235] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- FECH gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-11-18
- Construct for LOINC Short Name
- FECH gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FECH 基因 Synonyms: EPP; |
| et-EE | Estonian (Estonia) | FECH geen |
| es-ES | Spanish (Spain) | Gen FECH |
| it-IT | Italian (Italy) | FECH, gene Synonyms: Gene FECH |
| tr-TR | Turkish (Turkey) | FECH geni |
| ru-RU | Russian (Russian Federation) | FECH ген |
| nl-NL | Dutch (Netherlands) | FECH-gen Synonyms: FECH gen |
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