Ontology highlight
ABSTRACT:
SUBMITTER: Suzuki M
PROVIDER: S-EPMC3394102 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
The open ophthalmology journal 20120621
Electrogenic Na(+)-HCO(3) (-) cotransporter NBCe1 is expressed in several tissues such as kidney, eye, and brain, where it may mediate distinct biological processes. In particular, NBCe1 in renal proximal tubules is essential for the regulation of systemic acid/base balance. On the other hand, NBCe1 in eye may be indispensable for the maintenance of tissue homeostasis. Consistent with this view, homozygous mutations in NBCe1 cause severe proximal renal tubular acidosis associated with ocular abn ...[more]