Protein-coding gene in the species Homo sapiens
Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene .[5] [6] [7] [8]
Function [ edit ] SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney .[8]
Interactions [ edit ] SLC34A3 has been shown to interact with PDZK1 .[9]
Clinical Correlation [ edit ] 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 [ edit ] References [ edit ]
^ 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" . The Journal of Biological Chemistry . 277 (22): 19665–72. doi :10.1074/jbc.M200943200 PMID 11880379 . ^ 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 (February 2006). "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3" . American Journal of Human Genetics . 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 (February 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" . American Journal of Human Genetics . 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 International . 64 (5): 1733–45. doi :10.1046/j.1523-1755.2003.00266.x PMID 14531806 .
Further reading [ edit ]
Forster IC, Hernando N, Biber J, Murer H (November 2006). "Proximal tubular handling of phosphate: A molecular perspective" . Kidney International . 70 (9): 1548–59. doi :10.1038/sj.ki.5001813 PMID 16955105 . Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K (2007). "Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function". Journal of Bone and Mineral Metabolism . 25 (6): 407–13. doi :10.1007/s00774-007-0776-6 . PMID 17968493 . S2CID 20210798 . Ehnes C, Forster IC, Bacconi A, Kohler K, Biber J, Murer H (November 2004). "Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites" . The Journal of General Physiology . 124 (5): 489–503. doi :10.1085/jgp.200409061 . PMC 2234003 PMID 15504899 . 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 International . 64 (5): 1733–45. doi :10.1046/j.1523-1755.2003.00266.x PMID 14531806 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11): (12): (13): (14): (15): (16): (17): (18): (19): (20):
SLC21–30
(21): (22): (23): (24): (25): (26): (27): (28): (29): (30):
SLC31–40
(31): (32): (33): (34): (35): (36): (37): (38): (39): (40):
SLC41–48
(41): (42): (43): (44): (45): (46): (47): (48):
