Thyroid Peroxidase

Alternative Names

  • TPO
  • Thyroperoxidase
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OMIM Number

606765

NCBI Gene ID

7173

Uniprot ID

P07202

Length

130,386 bases

No. of Exons

19

No. of isoforms

8

Protein Name

Thyroid peroxidase

Molecular Mass

102963 Da

Amino Acid Count

933

Genomic Location

chr2:1,413,287-1,543,672

Gene Map Locus
2p25.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001206744.2:c.1472G>AUnited Arab EmiratesNC_000002.12:g.1484729G>APathogenic, Uncertain SignificancePathogenicThyroid Dyshormonogenesis 2ANG_011581.1:g.76267G>A; NM_001206744.2:c.1472G>A; NP_001193673.1:p.Arg491His201165648252491
NM_001206744.2:c.1994G>AUnited Arab EmiratesNC_000002.12:g.1494027G>ALikely PathogenicPathogenicThyroid Dyshormonogenesis 2ANG_011581.1:g.85565G>A; NM_001206744.2:c.1994G>A; NP_001193673.1:p.Arg665Gln140124953374344
NM_001206744.2:c.2421delOmanNC_000002.12:g.1503982delPathogenicPathogenicThyroid Dyshormonogenesis 2ANG_011581.1:g.95520del; NM_001206744.2:c.2421del; NP_001193673.1:p.Cys808AlafsTer24760307139623380
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