SLC4A11
Description
The SLC4A11 (solute carrier family 4 member 11) is a protein-coding gene located on chromosome 20.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
SLC4A11 is a multifunctional transporter that plays a role in cell morphology and differentiation. In the presence of borate (B(OH)4-), it acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter, controlling boron homeostasis. It participates in early stem cell differentiation by promoting cell adhesion and contractility, driving differentiation towards osteogenic commitment while inhibiting adipogenesis. In the absence of B(OH)4-, it acts as a Na(+)-coupled OH(-) or H(+) permeable channel, influencing cellular redox balance. SLC4A11 regulates the oxidative stress response in corneal endothelium, enhancing antioxidant defenses and protecting cells from reactive oxygen species. In response to hypo-osmotic challenge, it also acts as a water permeable channel at the basolateral cell membrane of corneal endothelial cells, facilitating transendothelial fluid reabsorption in the aqueous humor. In the presence of ammonia, it functions as an electrogenic NH3/H(+) cotransporter, possibly involved in ammonia transport and reabsorption in renal Henle's loop epithelium.
SLC4A11 is also known as BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2.
Associated Diseases
- Corneal dystrophy-perceptive deafness syndrome
- Congenital hereditary endothelial dystrophy type II
- Fuchs endothelial corneal dystrophy
- Corneal endothelial dystrophy and perceptive deafness
- Corneal endothelial dystrophy, autosomal recessive
- Corneal dystrophy, Fuchs endothelial, 4
