RecName: Full=Sodium-dependent phosphate transport protein 2C; Short=S - Protein

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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. [Kidney Int. 2023]
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Genomics England Research Consortium, Howles S, Gale DP, Böckenhauer D. Kidney Int. 2023 Nov; 104(5):975-984. Epub 2023 Jul 4.
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants. [Sci Rep. 2023]
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Brazier F, Courbebaisse M, David A, Bergerat D, Leroy C, Lindner M, Maruani G, Saint Jacques C, Letavernier E, Hureaux M, et al. Sci Rep. 2023 Jan 3; 13(1):85. Epub 2023 Jan 3.
Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. [Mol Genet Genomic Med. 2020]
Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.
Yu S, Chen WX, Lu W, Chen C, Ni Y, Duan B, Wang B, Wang H, Xu ZM. Mol Genet Genomic Med. 2020 May; 8(5):e1222. Epub 2020 Mar 10.

RefSeq genomic sequence
See the genomic reference sequence for the SLC34A3 gene (NG_017008.2).
RefSeq protein isoforms
See 22 reference sequence protein isoforms for the SLC34A3 gene.

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Q8N130 [Domain Mapping of Disease Mut...]
Q8N130
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Sodium-dependent phosphate transport protein 2C; Short=Sodium-phos...
RecName: Full=Sodium-dependent phosphate transport protein 2C; Short=Sodium-phosphate transport protein 2C; AltName: Full=Na(+)-dependent phosphate cotransporter 2C; AltName: Full=Sodium/inorganic phosphate cotransporter IIC; AltName: Full=Sodium/phosphate cotransporter 2C; Short=Na(+)/Pi cotransporter 2C; Short=NaPi-2c; AltName: Full=Solute carrier family 34 member 3
gi|313104149|sp|Q8N130.2|NPT2C_HUMA

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