Title : Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.

Pub. Date : 2013 Mar 5

PMID : 23348515






1 Functional Relationships(s)
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1 Previously, two exon 11 small deletions, c.1699_1670DeltaAT (DeltaAT) and c.1706_1709DeltaAGTG (DeltaAGTG), that prematurely truncated or elongated the ALAS2 polypeptide, were reported to increase enzymatic activity 20- to 40-fold, causing the erythroid accumulation of protoporphyrins, cutaneous photosensitivity and liver disease. Protoporphyrins 5'-aminolevulinate synthase 2 Homo sapiens