Erythroid-specific 5-aminolevulinate synthase (ALAS2) catalyzes the rate-limiting step in heme biosynthesis of erythroid cells.

红系特异的5-氨基酮戊酸合成酶（ALAS2）是红系细胞血红素生物合成的限速酶。

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The absence of ALAS2 leads to maturation arrest of primitive erythroid cells. Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia (XLSA).

ALAS2的缺失能导致红细胞发育的停滞，ALAS2基因的遗传性突变能引起X-连锁的成高铁红细胞贫血（XLSA）。

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