GTR Home > Genes

SLC25A3 solute carrier family 25 member 3

Also known as: PHC; PTP; OK/SW-cl.48

Summary

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mitochondrial phosphate carrier deficiency
MedGen: C1835845OMIM: 610773GeneReviews: Not available
See labs

Genomic context

Location:
12q23
Sequence:
Chromosome: 12; NC_000012.12 (98593625..98602000)
Total number of exons:
8

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.