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SLC34A3

SLC34A3

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC34A3 gene?

The official name of this gene is “solute carrier family 34 (type II sodium/phosphate cotransporter), member 3.”

SLC34A3 is the gene's official symbol. The SLC34A3 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC34A3 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.

How are changes in the SLC34A3 gene related to health conditions?

Genetics Home Reference provides information about hereditary hypophosphatemic rickets, which is associated with changes in the SLC34A3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the SLC34A3 gene's known or predicted involvement in human disease.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH): Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC34A3 gene.
  • Autosomal recessive hypophosphatemic bone disease
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the SLC34A3 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC34A3 gene located?

Cytogenetic Location: 9q34

Molecular Location on chromosome 9: base pairs 137,230,115 to 137,236,553

The SLC34A3 gene is located on the long (q) arm of chromosome 9 at position 34.

The SLC34A3 gene is located on the long (q) arm of chromosome 9 at position 34.

More precisely, the SLC34A3 gene is located from base pair 137,230,115 to base pair 137,236,553 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC34A3?

You and your healthcare professional may find the following resources about SLC34A3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC34A3 gene or gene products?

  • HHRH
  • NPTIIc

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC34A3?

autosomal ; autosomal recessive ; brush border ; calcium ; excretion ; expressed ; gene ; hereditary ; kidney ; Na ; phosphate ; recessive ; renal ; rickets ; sodium ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: May 4, 2015