SLC34A3
Encyclopedia
Sodium-dependent phosphate transport protein 2C is a protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 that in humans is encoded by the SLC34A3 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Function

SLC34A3 contributes to the maintenance of inorganic phosphate
Phosphate
A phosphate, an inorganic chemical, is a salt of phosphoric acid. In organic chemistry, a phosphate, or organophosphate, is an ester of phosphoric acid. Organic phosphates are important in biochemistry and biogeochemistry or ecology. Inorganic phosphates are mined to obtain phosphorus for use in...

 concentration at the kidney
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...

.

Clinical Correlation

A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones , bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23...

 with hypercalciuria
Hypercalciuria
Hypercalciuria or hypercalcinuria is the condition of elevated calcium in the urine. Chronic hypercalcinuria may lead to impairment of renal function, nephrocalcinosis, and renal insufficiency....

. 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
Vitamin D
Vitamin D is a group of fat-soluble secosteroids. In humans, vitamin D is unique both because it functions as a prohormone and because the body can synthesize it when sun exposure is adequate ....

(yields the hypercalcuria).

Further reading

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