FECH Gene

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Li, V. FECH Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5517 (accessed on 21 September 2026).

Li V. FECH Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5517. Accessed September 21, 2026.

Li, Vivi. "FECH Gene" Encyclopedia, https://encyclopedia.pub/entry/5517 (accessed September 21, 2026).

Li, V. (2020, December 25). FECH Gene. In Encyclopedia. https://encyclopedia.pub/entry/5517

Li, Vivi. "FECH Gene." Encyclopedia. Web. 25 December, 2020.

FECH Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fech

Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase.

genes

References

Badminton MN, Elder GH. Molecular mechanisms of dominant expression inporphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review.
Bloomer JR, Wang Y, Singhal A, Risheg H. Biochemical abnormality inerythropoietic protoporphyria: cause and consequences. J Pediatr GastroenterolNutr. 2006 Jul;43 Suppl 1:S36-40.
Di Pierro E, Moriondo V, Cappellini MD. Human gene mutations. Gene symbol:FECH. Disease: Porphyria, erythropoietic. Hum Genet. 2004 Jan;114(2):221.
Elder GH. Genetic defects in the porphyrias: types and significance. ClinDermatol. 1998 Mar-Apr;16(2):225-33. Review.
Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P,Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC. Contribution ofa common single-nucleotide polymorphism to the genetic predisposition forerythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14.
Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. The penetrance of dominant erythropoietic protoporphyria is modulatedby expression of wildtype FECH. Nat Genet. 2002 Jan;30(1):27-8.
Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B,Deybach JC. Modulation of penetrance by the wild-type allele in dominantlyinherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb;114(3):256-62.
Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-SalamancaR, Lecha M. Clinical, biochemical, and genetic study of 11 patients witherythropoietic protoporphyria including one with homozygous disease. ArchDermatol. 2007 Sep;143(9):1125-9.
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review.
Rand EB, Bunin N, Cochran W, Ruchelli E, Olthoff KM, Bloomer JR. Sequentialliver and bone marrow transplantation for treatment of erythropoieticprotoporphyria. Pediatrics. 2006 Dec;118(6):e1896-9.
Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in NorthAmerican patients with erythropoietic protoporphyria. Mol Genet Metab. 2003Sep-Oct;80(1-2):196-206.
Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J InternMed. 2000 Feb;247(2):169-78. Review.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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