GTR Home > Genes

TPO thyroid peroxidase

Also known as: MSA; TPX; TDH2A

Summary

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Deficiency of iodide peroxidase
MedGen: C1291299OMIM: 274500GeneReviews: Not available
See labs

Genomic context

Location:
2p25.3
Sequence:
Chromosome: 2; NC_000002.12 (1413461..1542729)
Total number of exons:
17

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.

Support Center