GENE NAME | SLC4A11 |
CHROMOSOME | 20 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000088836 |
UNIPROT ACCESSION NUMBER | Q8NBS3 |
GO MOLECULAR FUNCTION | ['active borate transmembrane transporter activity', 'proton transmembrane transporter activity', 'bicarbonate transmembrane transporter activity', 'anion:anion antiporter activity', 'transmembrane transporter activity', 'sodium channel activity', 'protein dimerization activity', 'water transmembrane transporter activity', 'symporter activity', 'inorganic anion exchanger activity', 'proton channel activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
2 combinations linked to SLC4A11 | OLI1313; OLI1690 |
2 variants linked to SLC4A11 | SLC4A11:c.1701C>T, p.Leu567Leu; SLC4A11:c.2305G>A, p.Gly769Arg |
2 diseases linked to SLC4A11 | Rare genetic deafness; Non-Syndromic genetic keratoconus |