Details for Gene SLC34A1

GENE NAME SLC34A1
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000131183
UNIPROT ACCESSION NUMBER Q06495
GO MOLECULAR FUNCTION ['PDZ domain binding', 'protein binding', 'sodium:phosphate symporter activity', 'identical protein binding', 'protein-containing complex binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04928; hsa04978; hsa04928; hsa04978; R-HSA-1643685; R-HSA-382551; R-HSA-392499; R-HSA-425393; R-HSA-425407; R-HSA-427589; R-HSA-427652; R-HSA-5619040; R-HSA-5619102; R-HSA-5619115; R-HSA-5683826; hsa04928; hsa04978; hsa04928; hsa04978
5 combinations linked to SLC34A1 OLI1790; OLI1613; OLI1614; OLI008; OLI1791
4 variants linked to SLC34A1 SLC34A1:c.1535G>A, p.Arg512His; SLC34A1:c.80C>T, p.Thr27Met; SLC34A1:c.1172C>T, p.Thr391Met; SLC34A1:c.272_292del21, p.Val91_Ala97del
2 diseases linked to SLC34A1 Dent disease; Hereditary hypophosphatemic rickets with hypercalciuria

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