Gene: [02p2/TPO] thyroid peroxidase; hypothyroidism due to thyroid peroxidase deficiency;
GEN | The gene length is 150 kb. Exons: 17 (Kimura-1989). |
FUN | [1] Thyroid peroxidase
participates in organification of iodine, i.e. its oxidation and binding by
thyroglobulin. [2] The reaction catalyzed: iodide + H(2)O(2) = iodine + 2 H(2)O. [3] Cofactor: heme." |
MOP | The protein with MM 100 kD is located on the outer surface of the thyroid cell apical membrane. The protein also constitutes a part of the thyroid microsomal antigen (in autoimmune thyroiditis). The length of the processed transcript (mRNA) is 3 kb." |
HET | Recessive TPO defects is one of the factors of heterogeneity of inherited hypothyroidism." |
PRO | Probe pTPO2/0.7EP (a 0.7 kb fragment) has been cloned at EcoRI-PstI sites in the plasmid pGem3 blue. This probe identifies a constant 20 kb fragment and up to nine polymorphic alleles in 3.0-4.1 kb fragments of EcoRI hydrolysate of gDNA." |
REF | SEQ "Barnett PS &: NAR, 18, 670, 1990 POL,PRO "Bikker H &: Hum Genet, 82, 95, 1989 PAT,PHE,FOG "Couch &: J Pediatr, 106, 950-953, 1985 LOC,PRO "de Vijlder JJ &: CCG, 47, 170-172, 1988 GEN,SEQ "Kimura S &: Biochemistry, 28, 4481-4489, 1989 SEQ,EXP,LOC "Kimura S &: PNAS, 84, N16, 5555-5559, 1987 CLO,SEQ,EXP "Libert &: EMBO J, 13, 4193-4196, 1987 PAT,PHE,FOG "Medeiros-Neto &: Clin Endocrinol, 17, 1-14, 1982 CLO,SEQ,EXP "Seto P &: J Clin Invest, 80, 1205-1208, 1987 PAT,PHE,FOG "Wolff J: Endocrine Rev, 4, 240-254, 1983 |
SWI | SWISSPROT: P07202 |
KEY | horm, ion |
CLA | coding, basic |
LOC | 02 p25-24 |
MIM | MIM: 274500 |
EZN | ENZYME: 1.11.1.8 |
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