Title : Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.

Pub. Date : 2015 Sep 15

PMID : 26300302






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Mutations in the C-terminal region of human erythroid-specific ALAS (hALAS2) are associated with X-linked protoporphyria (XLPP), a disease characterized by extreme photosensitivity, with elevated blood concentrations of free protoporphyrin IX and zinc protoporphyrin. zinc protoporphyrin 5'-aminolevulinate synthase 2 Homo sapiens