Role of Drosophila EDEMs in the degradation of the alpha-1-antitrypsin Z variant.
Seoul, South Korea. In Int J Mol Med, Apr 2015
We previously established a Drosophila model of this disease by overexpressing the null Hong Kong (NHK) allele of this gene and found that the Drosophila lectin, ER degradation-enhancing α-mannosidase-like protein 2 (EDEM2), can accelerate the degradation of A1AT when overexpressed.
High levels of protein C are determined by PROCR haplotype 3.
Leiden, Netherlands. In J Thromb Haemost, 2011
Four haplotypes of PROCR, two SNPs in the neighboring gene EDEM2 and critical SNPs encountered during resequencing were genotyped in the family and in a large group of healthy individuals (the Leiden Thrombophilia Study (LETS) controls).