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SLC34A3

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Identifiers
SymbolsSLC34A3 ; HHRH; NPTIIc
External IDsOMIM609826 MGI2159410 HomoloGene15444 IUPHAR: 1137 GeneCards: SLC34A3 Gene
Orthologs
SpeciesHumanMouse
Entrez142680142681
EnsemblENSG00000198569ENSMUSG00000006469
UniProtQ8N130Q80SU6
RefSeq (mRNA)NM_001177316NM_080854
RefSeq (protein)NP_001170787NP_543130
Location (UCSC)Chr 9:
140.13 – 140.13 Mb
Chr 2:
25.23 – 25.23 Mb
PubMed search[1][2]

Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.[1][2][3][4]

Function

SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.[4]

Interactions

SLC34A3 has been shown to interact with PDZK1.[5]

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).[2]

See also

References

  1. ^ 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. PMID 11880379. doi:10.1074/jbc.M200943200. 
  2. ^ 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. PMC 1380229. PMID 16358215. doi:10.1086/499410. 
  3. ^ 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. PMC 1380228. PMID 16358214. doi:10.1086/499409. 
  4. ^ a b "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3". 
  5. ^ 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. PMID 14531806. doi:10.1046/j.1523-1755.2003.00266.x. 

Further reading

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