Molecular analysis of the hemojuvelin gene and protein. (A) Schematic representation of the genomic structure of the HJV gene. The position of the mutations is indicated above the gene. Novel mutations detected in this study are in red, mutations previously described14 are in blue, mutations identified in both papers are in green. (B) Predicted domains of the hemojuvelin protein according to SMARTv4 (http://smart.embl-heidelberg.de) and Pfam (http://www.sanger.ac.uk/Software/Pfam) databases. The signal peptide is marked in red, the low-complexity regions are in pink, and the carboxy-terminal peptide is in blue. The region of homology to RGM, a glycosyl-phosphatidyl-inositol (GPI)-linked axon guidance molecule, the RGD motif, the von Willebrand-like domain, and the C-terminal transmembrane domain are indicated. GRP indicates glycine-rich protein.
