Title : C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Pub. Date : 2008 Sep

PMID : 18760763






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. Heme 5'-aminolevulinate synthase 2 Homo sapiens