Thyroid peroxidase (TPO) gene and pathogenic TPO mutation
Asakawa, H.
Nihon Rinsho. Japanese Journal of Clinical Medicine 52(4): 864-868
1994
ISSN/ISBN: 0047-1852 PMID: 8196171 Document Number: 424282
TPO is the key enzyme involved in the thyroid hormone synthesis. The human TPO (hTPO) gene locates on chromosome 2 and consists of 17 exons and 16 introns. Compared with other peroxidases, hTPO is 42% homologous with granulocyte myeloperoxidase. Thyroid cells contain multiple TPO mRNA transcripts of various size. However, the reason is unknown. TTF-1 and TTF-2 are known to regulate TPO gene expression. Moreover, the other factors are becoming clear to regulate it. Congenital TPO defects result in hypothyroidism and goiter. Recent studies clarify a human mutation causing TPO deficiency.
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