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).