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PBGD gene alternative splicing: Housekeeping and erythroid-specific variants

PBGD gene alternative splicing: Housekeeping and erythroid-specific variants
Organization of the PBGD gene and alternative splicing to produce housekeeping and erythroid-specific transcripts. Exons are shown as solid rectangles; Alu repeat elements are shown by pentagons. The promotor for the housekeeping transcript is upstream of exon 1, and the promotor for the erythroid transcript is immediately upstream of exon 2. ATG-H and ATG-E represent the translation initiation codons for the housekeeping and erythroid forms, respectively.
PBGD: porphobilinogen deaminase, also called hydroxymethylbilane synthase (HMBS).
Reproduced with permission from: Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al (Eds), McGraw-Hill, New York 2001. Copyright © 2001 McGraw-Hill Education.
Graphic 96535 Version 2.0