Clinical aspects of urea transporters

Subcell Biochem. 2014:73:179-91. doi: 10.1007/978-94-017-9343-8_12.

Abstract

Jk antigens, which were identified as urea transporter B (UT-B) in the plasma membrane of erythrocytes, and which determine the Kidd blood type in humans, are involved in transfusion medicine, and even in organ transplantation. The Jk(a-b-) blood type is a consequence of a silent Slc14A1 gene caused by various mutations related to lineage. In addition, the specific mutations related to hypertension and metabolic syndrome cannot be ignored. Genome-wide association studies established Slc14A1 as a related gene of bladder cancer and some genotypes are associated with higher morbidity. This chapter aims to introduce the clinical significance of urea transporters.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Substitution
  • Erythrocytes / metabolism*
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study
  • Humans
  • Kidd Blood-Group System / genetics*
  • Membrane Transport Proteins / genetics*
  • Mutation*
  • Risk Factors
  • Urea Transporters
  • Urinary Bladder Neoplasms / genetics

Substances

  • Kidd Blood-Group System
  • Membrane Transport Proteins