ALAS2
gene productASB
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Featured antibodies
Thermo Fisher Scientific Pierce |
PA5-21553 | 0 references | Polyclonal |
WB
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