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]
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.
PMID17968493.
S2CID20210798.
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]
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.
PMID17968493.
S2CID20210798.