Details for Gene SLC4A4

GENE NAME SLC4A4
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000080493
UNIPROT ACCESSION NUMBER Q9Y6R1
GO MOLECULAR FUNCTION ['protein binding', 'transmembrane transporter activity', 'symporter activity', 'inorganic anion exchanger activity', 'sodium:bicarbonate symporter activity', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04964; hsa04972; hsa04976; R-HSA-1643685; R-HSA-382551; R-HSA-425381; R-HSA-425393; R-HSA-425407; R-HSA-5619054; R-HSA-5619102; R-HSA-5619115
2 combinations linked to SLC4A4 OLI1688; OLI1680
2 variants linked to SLC4A4 SLC4A4:c.1256C>T, p.Thr419Met; SLC4A4:c.149G>C, p.Gly50Ala
1 disease linked to SLC4A4 Non-Syndromic genetic keratoconus

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