The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review

Mol Genet Metab. 2007 Apr;90(4):358-62. doi: 10.1016/j.ymgme.2006.11.004. Epub 2006 Dec 18.

Abstract

The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun to be elucidated. We review here the known roles of RPS19 in both ribosome construction and other extra-ribosomal functions and discuss their relationship to Diamond-Blackfan anemia.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Diamond-Blackfan / genetics*
  • Anemia, Diamond-Blackfan / metabolism
  • Genetic Predisposition to Disease*
  • Humans
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism
  • Ribosomes / genetics
  • Ribosomes / metabolism*

Substances

  • Ribosomal Proteins
  • ribosomal protein S19