Sodium-dependent phosphate transport protein 2C is a
protein that in humans is encoded by the ''SLC34A3''
gene.
Function
SLC34A3 contributes to the maintenance of
inorganic phosphate concentration at the
kidney.
Interactions
SLC34A3 has been shown to
interact
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with
PDZK1.
Clinical Correlation
A mutation in the SLC34A3 gene has been known to cause the
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
condition hereditary
hypophophatemic rickets with
hypercalciuria. This gene is correlated closely with
SLC34A1
Sodium-dependent phosphate transport protein 2A, also known as Na+-Pi cotransporter 2a (NaPi-2a), is a protein in humans that is encoded by the ''SLC34A1'' gene. This gene encodes a member of the type II sodium-phosphate cotransporter family.
Fu ...
, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of
1,25-dihydroxyvitamin D
Calcitriol is the active form of vitamin D, normally made in the kidney. It is also known as 1,25-dihydroxycholecalciferol. It is a hormone which binds to and activates the vitamin D receptor in the nucleus of the cell, which then increases the ...
(yields the hypercalcuria).
See also
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References
Further reading
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Solute carrier family
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