Details for Gene SLC4A11

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

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