EC Number   |
General Information |
Reference |
|---|
   1.21.1.1 | evolution |
domain swaps at each N and C terminus consistent with the nitro-FMN reductase superfamily |
734321 |
| 1.21.1.1 | malfunction |
increased sup-18(+) expression in body-wall muscles specifically enhances the behavioral defects of sup-10(n983gf) mutants |
734996 |
| 1.21.1.1 | malfunction |
loss-of-function mutations of the enzyme lead to the iodotyrosine deiodinase deficiency (ITDD), characterized by accumulation of mono- and diiodotyrosines in thyroid gland, plasma, and urine, hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, phenotype, overview. Lack of biochemical expression of the disease at the beginning of life |
733237 |
| 1.21.1.1 | malfunction |
thyroid dysfunction can have very serious consequences, including mental retardation |
733452 |
| 1.21.1.1 | metabolism |
genetic analyses suggest that SUP-10 can function with SUP-18 to activate SUP-9 through a pathway that is independent of the presumptive SUP-9 regulatory subunit UNC-93. The SUP-9 two-pore domain K+ channel is most closely related to human TASK-3. unc-93 encodes a conserved multi-pass transmembrane protein. An evolutionarily conserved serine-cysteine-rich region in the C-terminal cytoplasmic domain of SUP-9 is required for its specific activation by SUP-10 and SUP-18 but not by UNC-93 |
734996 |
| 1.21.1.1 | metabolism |
reductive dehalogenation such as that catalyzed by iodotyrosine deiodinase is highly unusual in aerobic organisms but necessary for iodide salvage from iodotyrosine generated during thyroxine biosynthesis |
733360 |
| 1.21.1.1 | more |
a synergy between substrate selectivity and catalytic activity is created by the enzyme, active site and cofactor and substrate binding structures, overview |
734321 |
| 1.21.1.1 | more |
the human enzyme harbors a conserved nitroreductase domain |
733237 |
| 1.21.1.1 | physiological function |
a FMN moiety that is involved in reduced NADPH-dependent reductive deiodination of 3-iodo-Ltyrosine (MIT) and 3,5-diiodo-L-tyrosine (DIT), which are released along with the thyroid hormones T4 and T3 during thyroglobulin proteolysis. Iodotyrosine deiodinase is involved in iodide salvage by catalyzing deiodination of iodinated by-products of thyroid hormone production. Thyroid hormones play important roles in growth, development, differentiation, and basal metabolic homeostasis, as well as in brain development in human fetus and children |
733452 |
| 1.21.1.1 | physiological function |
iodotyrosine deiodinase utilizes FMN to maintain iodide homeostasis by reductive deiodination of iodotyrosine |
734321 |
