[HTML][HTML] Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities
IA Lopez, MI Rosenblatt, C Kim, GC Galbraith… - Journal of biological …, 2009 - ASBMB
NaBC1 (the SLC4A11 gene) belongs to the SLC4 family of sodium-coupled bicarbonate
(carbonate) transporter proteins and functions as an electrogenic sodium borate
cotransporter. Mutations in SLC4A11 cause either corneal abnormalities (corneal hereditary
dystrophy type 2) or a combined auditory and visual impairment (Harboyan syndrome). The
role of NaBC1 in sensory systems is poorly understood, given the difficulty of studying
patients with NaBC1 mutations. We report our findings in Slc4a11−/− mice generated to …
(carbonate) transporter proteins and functions as an electrogenic sodium borate
cotransporter. Mutations in SLC4A11 cause either corneal abnormalities (corneal hereditary
dystrophy type 2) or a combined auditory and visual impairment (Harboyan syndrome). The
role of NaBC1 in sensory systems is poorly understood, given the difficulty of studying
patients with NaBC1 mutations. We report our findings in Slc4a11−/− mice generated to …