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Gene Symbol |
TPO |
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Aliases |
MSA, TDH2A, TPX |
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Entrez Gene ID |
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Gene Name |
Thyroid peroxidase |
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Chromosomal Location |
2p25.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000382269, ENST00000329066, ENST00000382201, ENST00000423320, ENST00000382198, ENST00000422464, ENST00000446278, ENST00000469607, ENST00000345913, ENST00000539820, ENST00000346956, ENST00000629774, ENST00000627010, ENST00000627917, ENST00000628844, ENST00000625313, ENST00000625793, ENST00000626753, ENST00000626995, ENST00000617910, ENST00000622050, ENST00000613631 |
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Protein |
ENSP00000371704, ENSP00000329869, ENSP00000371636, ENSP00000390994, ENSP00000371633, ENSP00000405788, ENSP00000400033, ENSP00000419461, ENSP00000318820, ENSP00000444840, ENSP00000263886, ENSP00000487562, ENSP00000487200, ENSP00000486403, ENSP00000486958, ENSP00000486538, ENSP00000486520, ENSP00000487159, ENSP00000487272, ENSP00000480200, ENSP00000481794, ENSP00000482926
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Protein Information |
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Protein Name |
Thyroid peroxidase, thyroid microsomal antigen, thyroperoxidase |
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Function |
Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). |
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UniProt |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000347979 |
P25445 |
P25445 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Developmental Delay |
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Endocrine System Diseases |
Thyroid Agenesis |
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Hypothyroidism |
8964831, 11061528, 27166716, 27525530, 12938097, 8027236, 27173810, 17468186, 17213840, 10084596, 9024270, 25741868, 7550241, 16187919, 14751036, 17381485, 12564727 |
Insulin Resistance Syndrome |
12843174, 8964831, 9024270, 11061528, 7550241, 14751036, 11916616, 18029453, 10084596, 16684826, 11415848, 12490071, 9924196, 12864797, 11874711, 10468986, 16284446, 12938097, 12213873, 27305979, 16187919, 17381485, 12564727 |
Endemic Cretinism |
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PCOS |
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Immune System Diseases |
Autoimmune Diseases |
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Nervous System Diseases |
Neuropathy |
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Psychiatric/Brain disorders |
Mental Retardation |
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Bipolar Disorder |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Autoimmune thyroiditis,Increased estrogen-to-progesterone ratio |
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NIH |
Related
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Elevated thyroperoxidase (TPO) was observed in 26.9% of PCOS patients |
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