Entrez gene ID | | 83959 |
Official gene symbol | | SLC4A11 |
Full name | | solute carrier family 4, sodium borate transporter, member 11 |
Aliases | | ,BTR1,CHED2,MGC126418,MGC126419,NABC1,dJ794I6.2, |
Gene 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] |
Location | | Chromosome: 20 Locus: 20p12 |
Gene position | | 3219887 - 3208063 Map Viewer |
Gene orientation | | minus |
Gene size | | 11825 bp |
Gene sequence |
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OMIM ID | | 610206 |
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