The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.

Abstract:

:Ferrochelatase [heme synthase, protoheme ferrolyase (EC 4.99.1.1)], the terminal enzyme of the heme biosynthetic pathway, catalyzes the incorporation of ferrous ion into protoporphyrin IX to form protoheme IX. The genes and cDNAs for ferrochelatase from mammals and micro-organisms have been isolated. The gene for human ferrochelatase has been mapped to chromosome 18q 21.3 and consists of 11 exons with a size of about 45 kilodaltons. The induction of ferrochelatase expression occurs during erythroid differentiation, and can be attributed to the existence of the promoter sequences of erythroid-related genes. Analysis of the ferrochelatase gene in patients with erythropoietic protoporphyria, an inherited disease caused by ferrochelatase defects, revealed that molecular anomalies of ferrochelatase from 11 patients were found in 9 patients as autosomal dominant type, and 2 patients as recessive type. Diversity of the mutations of the ferrochelatase gene is also briefly described.

journal_name

J Bioenerg Biomembr

authors

Taketani S,Fujita H

doi

10.1007/BF02110038

subject

Has Abstract

pub_date

1995-04-01 00:00:00

pages

231-8

issue

2

eissn

0145-479X

issn

1573-6881

journal_volume

27

pub_type

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