Sodium-dependent phosphate transport protein 2C
SLC34A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | SLC34A3, HHRH, NPTIIc, solute carrier family 34 member 3, NaP2b | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 609826; MGI: 2159410; HomoloGene: 15444; GeneCards: SLC34A3; OMA:SLC34A3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.[5][6][7][8]
Function
SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.[8]
Interactions
SLC34A3 has been shown to interact with PDZK1.[9]
Clinical Correlation
A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).[6]
See also
- SLC34A3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198569 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006469 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Segawa H; Kaneko I; Takahashi A; Kuwahata M; Ito M; Ohkido I; Tatsumi S; Miyamoto K (May 2002). "Growth-related renal type II Na/Pi cotransporter". J Biol Chem. 277 (22): 19665–72. doi:10.1074/jbc.M200943200. PMID 11880379.
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: CS1 maint: unflagged free DOI (link) - ^ a b Lorenz-Depiereux B; Benet-Pages A; Eckstein G; Tenenbaum-Rakover Y; Wagenstaller J; Tiosano D; Gershoni-Baruch R; Albers N; Lichtner P; Schnabel D; Hochberg Z; Strom TM (Jan 2006). "Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3". Am J Hum Genet. 78 (2): 193–201. doi:10.1086/499410. PMC 1380229. PMID 16358215.
- ^ Bergwitz C; Roslin NM; Tieder M; Loredo-Osti JC; Bastepe M; Abu-Zahra H; Frappier D; Burkett K; Carpenter TO; Anderson D; Garabedian M; Sermet I; Fujiwara TM; Morgan K; Tenenhouse HS; Juppner H (Jan 2006). "SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis". Am J Hum Genet. 78 (2): 179–92. doi:10.1086/499409. PMC 1380228. PMID 16358214.
- ^ a b "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".
- ^ Gisler SM; Pribanic S; Bacic D; Forrer P; Gantenbein A; Sabourin LA; Tsuji A; Zhao ZS; Manser E; Biber J; Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.