endoplasmic reticulum retention
Exemples
alpha1-anti-trypsin deficiency (alpha1AT deficiency) variants exhibit a selective defect in migration of this secretory protein from the endoplasmic reticulum (ER) to Golgi apparatus.
- This is most marked for the PiZ polypeptide, attributable to a single amino acid substitution of Glu342 to Lys342.
- The mutant polypeptide (?1AT-Z) is abnormally folded, and polymerizes, causing its retention in the ER.
- All individuals with the PiZZ genotype accumulate ?1AT-Z in the ER of hepatocytes.