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ALA synthase


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The first and rate-limiting enzyme in the haem biosynthetic pathway (5-aminolaevulinate synthase) that catalyses production of 5-aminolaevulinic acid. There are two tissue-specific mitochondrial isozymes: a housekeeping enzyme encoded by the ALAS1 gene (EC 2.3.1.37, 640 aa) and an erythroid tissue-specific form (587 aa) encoded by ALAS2. Defects in the ALAS2 gene cause X-linked sideroblastic anaemia, an anaemia associated with accumulation of iron and the presence of sideroblasts in the bone marrow.

Subjects: Medicine and Health.


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