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ALAS2

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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Erythroid cells)

Immune cell specificity

Immune cell enriched (plasmacytoid DC)

Cell line specificity

Group enriched (HEL, K-562)

Interaction

Homodimer (PubMed:32499479). Interacts with SUCLA2 (PubMed:14643893, PubMed:32499479). [Isoform 4]: Interacts with SUCLA2.

Molecular function

Acyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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