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Article

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

Blood - 11 Aug 2011

To-Figueras Jordi, Ducamp Sarah, Clayton Jerome, Badenas Celia, Delaby Constance, Ged Cecile, Lyoumi Said, Gouya Laurent, de Verneuil Hubert, Beaumont Carole, Ferreira Gloria C, Deybach Jean-Charles, Herrero Carmen, Puy Herve

Abstract excerpt

Mutations in the uroporphyrinogen III synthase (UROS) gene cause congenital erythropoietic porphyria (CEP), an autosomal-recessive inborn error of erythroid heme biosynthesis. Clinical features of CEP include dermatologic and hematologic abnormalities of variable severity. The discovery of a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP), which results from increased activity of...

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Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

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Share to Genetic Diseases, X-Linked

Share to Protoporphyria, Erythropoietic

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Source

Identifiers

PMID: 21653323
DOI: 10.1182/blood-2011-03-342873

Genes

ALAS2
UROS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.PMID 21653323Read ↗

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Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)Semantic proximity Read ↗

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