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Fig. 3 | Human Genomics

Fig. 3

From: Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading

Fig. 3

Cellular characterization of p.Q118dup BMP6 protein in a hepatic endothelial cell model, SK-HEP-1. a Immunofluorescence of stably transfected SK-HEP-1 cells. No difference in localization of the wildtype and p.Q118dup variant of BMP6 was observed. HA tag, N-terminus of pro-peptide; V5 tag, C-terminus of mature protein. b Western blot identifying the full-length (FL) and mature BMP6 proteins in cell lysate (CP) and conditioned media from untransfected (UT), wildtype (WT), and p.Q118dup BMP6 transfected SK-HEP-1 cells. c Quantification of Western blot shown in b (n = 3). The ratio of mature proteins in conditioned media to cell lysate shows no difference in protein secretion between WT and p.Q118dup BMP6 transfected cells

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