The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.
A synthesized peptide derived from human Blooms Syndrome Protein Blm, corresponding to a region within the internal amino acids.
The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).
A synthesized peptide derived from human BLZF1, corresponding to a region within N-terminal amino acids.
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