Fig. 1: Genomic organization, transcript, and protein structure of ABCC6. | Genetics in Medicine

Fig. 1: Genomic organization, transcript, and protein structure of ABCC6.

From: Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Fig. 1

(a) The ABCC6 gene is located on 16p13.11 and is flanked by two pseudogenes ABCC6P1 and ABCC6P2 (genomic positions according to build GRCh38). The arrows denote the direction of gene transcription. The transcript of ABCC6 contains 31 exons. ABCC6P1 and ABCC6P2 are homologous with the region spanning from exon 1 to intron 9, and exon 1 to intron 4 respectively. (b) The ABCC6 transporter contains the following structures: 3 transmembrane domains (TMD0-2), 2 linker domains (L0-1), and 2 nucleotide binding domains (NBD1–2). Conserved sequences within the NBD domains are: A-loop (A), Walker A (WA), Q-loop (Q), LSGGQ-signature (C), Walker B (WB), D-loop (D), H-loop (H) and PDZ-like sequence. Frequently mutated regions are indicated in gray circles. EC extracellular, IC intracellular, P plasma membrane.

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