[Thyroid peroxidase (TPO) gene and pathogenic TPO mutation].
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.
Asakawa
H
H
Second Department of Internal Medicine, Osaka University Medical School.
D000595:Amino Acid Sequence; D000818:Animals; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D007453:Iodide Peroxidase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis; D014157:Transcription Factors / Q000502:physiology
D012333:RNA, Messenger; D014157:Transcription Factors; D007453:Iodide Peroxidase