Literature DB >> 1783383

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.

D M Whitcombe1, N P Carter, D G Albertson, S J Smith, D A Rhodes, T M Cox.   

Abstract

We have mapped the human gene for ferrochelatase (FECH; ferroheme-protolyase, EC 4.99.1.1) to chromosome 18 by hybridization of cDNA to sorted chromosomes. The probe was obtained by PCR-directed amplification of a human marrow cDNA library in lambda gt 10. Subchromosomal localization of ferrochelatase to 18q22 was determined by chromosomal hybridization in situ using a human ferrochelatase genomic clone in lambda EMBL 3 that contained a 20-kb insert. Since ferrochelatase activity is deficient in patients with the inherited disease erythropoietic protoporphyria, a locus for this disease may be assigned to 18q22, one of few monogenic defects that have been mapped to this chromosome.

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Year:  1991        PMID: 1783383     DOI: 10.1016/0888-7543(91)90044-f

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  13 in total

1.  Improvement of hepatic protoporphyrin accumulation after antibiotic treatment.

Authors:  T Tsuchiyama; S Kaneko; E Matsushita; N Maeda; Y Horie; K Kobayashi
Journal:  Dig Dis Sci       Date:  2000-12       Impact factor: 3.199

2.  The diagnosis and management of erythropoietic protoporphyria.

Authors:  Manish Thapar; Herbert L Bonkovsky
Journal:  Gastroenterol Hepatol (N Y)       Date:  2008-08

Review 3.  Liver disease in erythropoietic protoporphyria: insights and implications for management.

Authors:  A V Anstey; R J Hift
Journal:  Postgrad Med J       Date:  2007-12       Impact factor: 2.401

Review 4.  Liver disease in erythropoietic protoporphyria: insights and implications for management.

Authors:  A V Anstey; R J Hift
Journal:  Gut       Date:  2007-03-14       Impact factor: 23.059

5.  Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Authors:  U B Rüfenacht; L Gouya; X Schneider-Yin; H Puy; B W Schäfer; R Aquaron; Y Nordmann; E I Minder; J C Deybach
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 6.  Erythropoietic protoporphyria.

Authors:  T M Cox
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 7.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

8.  Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.

Authors:  Pyoung-Jae Park; Shin Hwang; Young-Il Choi; Young-Dong Yu; Gil-Chun Park; Sung-Won Jung; Sam-Youl Yoon; Gi-Won Song; Tae-Yong Ha; Sung-Gyu Lee
Journal:  Clin Mol Hepatol       Date:  2012-12-21

9.  Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

Authors:  Victoria E Parera; Rita H Koole; Gardi Minderman; Annie Edixhoven; Maria V Rossetti; Alcira Batlle; Felix W M de Rooij
Journal:  Mol Med       Date:  2009-08-12       Impact factor: 6.354

10.  A molecular defect in human protoporphyria.

Authors:  D A Brenner; J M Didier; F Frasier; S R Christensen; G A Evans; H A Dailey
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

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