FIGURE

FIGURE 1

ID

ZDB-FIG-201121-65

Publication

So et al., 2020 - Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

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FIGURE 1

(A) Location of MAN1A2 SNPs associated with BA. The SNPs rs7531715 and rs12131109 are associated with BA in GWAS. The SNP rs10923326 in LD (r2 = 1) with rs7531715 is significantly associated with gene expression in the liver. (B)MAN1A2 expression in diseased BA liver. Bar diagram shows expression of the exon 6 and 7 region of MAN1A2 in liver tissue from BA cases [male: female 1:5, mean (SEM) age at LTx, 1.33 (0.55) years] and healthy controls. The remaining five panels show diffuse strong (3+) granular immunostaining of MAN1A2 in the hepatocyte cytoplasm along pericanalicular membranes in normal human allografts, and liver from children with Alagille’s syndrome and types 1 and 2 progressive familial intrahepatic cholestasis (PFIC). Reduced MAN1A2 immunostaining is seen in BA liver (x200).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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