Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesis (By similarity). In the absence of B(OH)4(-), acts as a Na(+)-coupled OH(-) or H(+) permeable channel with implications in cellular redox balance (PubMed:15525507, PubMed:28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PubMed:28642546). In response to hypo-osmotic challenge, also acts as a water permeable channel at the basolateral cell membrane of corneal endothelial cells and facilitates transendothelial fluid reabsorption in the aqueous humor (PubMed:23813972, PubMed:25007886, PubMed:31273259). In the presence of ammonia, acts as an electrogenic NH3/H(+) cotransporter and may play a role in ammonia transport and reabsorption in renal Henle's loop epithelium (PubMed:27581649).
Corneal dystrophy and perceptive deafness
CDPD
An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal endothelial dystrophy
CHED
A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Fuchs endothelial, 4
FECD4
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
None
The disease is caused by variants affecting the gene represented in this entry.
Glycosylated.
Belongs to the anion exchanger (TC 2.A.31) family.
Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes.
Isoform 3
Expressed in corneal endothelium (at protein level).
Isoform 5
The predominant isoform in corneal endothelium (at protein level).
BTR1, SLC4A11, Solute carrier family 4 member 11, Sodium borate cotransporter 1, NaBC1
Proteins
Immunology & Infectious Disease
99581Da
We found 1 product in 1 category