Gene Symbol | SLC4A11 |
Entrez Gene ID | 83959 |
Full Name | solute carrier family 4 member 11 |
Synonyms | BTR1,CDPD1,CHED,CHED2,NABC1,dJ794I6.2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Corneal endothelial dystrophy, autosomal recessive, 217700 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3); Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Cryohydrocytosis, 185020 (3) |