Title : A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.

Pub. Date : 2017 May

PMID : 28667034






1 Functional Relationships(s)
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1 We assume that this amino acid substitution affects the enzymatic activity of ALAS2 by affecting its interaction with the cofactor pyridoxal 5"-phosphate, since the patient was responsive to pyridoxine treatment. Pyridoxal Phosphate 5'-aminolevulinate synthase 2 Homo sapiens