Application | Comment | Organism |
---|---|---|
diagnostics | improvement of pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
gene DEHAL1, DNA and amino acid sequence determination and analysis, genotyping of healthy and iodotyrosine deiodinase deficiency samples | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A220T | naturally occuring mutation involved in iodotyrosine deiodinase | Homo sapiens |
I116T | naturally occuring mutation involved in iodotyrosine deiodinase deficiency, the mutant shows highly reduced activity compared to te wild-type enzyme | Homo sapiens |
additional information | mutations occuring in enzyme deficiency include homozygous one inframe-deletion of three base pairs (F105-I106L) and two missense (R101W, I116T). The mutations are located in close vicinity of each other within exon 2 of the gene encoding a putative FMN-binding site at the nitroreductase catalytic domain of the protein. All three mutations dramatically reduce the in vitro activity of the enzyme, one is also prematurely degraded | Homo sapiens |
R101W | naturally occuring mutation involved in iodotyrosine deiodinase deficiency, the mutant shows highly reduced activity compared to te wild-type enzyme | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-tyrosine + 2 NADP+ + 2 iodide | Homo sapiens | via mono-iodotyrosine | 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+ | - |
r |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q6PHW0 | gene DEHAL1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
thyroid | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-tyrosine + 2 NADP+ + 2 iodide | via mono-iodotyrosine | Homo sapiens | 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+ | - |
r | |
L-tyrosine + 2 NADP+ + 2 iodide | via mono-iodotyrosine, the reaction might involve an additional ferredoxin reductase | Homo sapiens | 3,5-diiodo-L-tyrosine + 2 NADPH + 2 H+ | - |
r | |
additional information | analytical detection method for iodotyrosine, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
Dehal1 protein | - |
Homo sapiens |
IYD | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
Ferredoxin | - |
Homo sapiens | |
FMN | dependent on | Homo sapiens | |
additional information | the cofactors form a redox electron transport chain, overview | Homo sapiens | |
NADPH | NADPH is a necessary donor of electrons for the reductive reaction | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
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 | Homo sapiens |
additional information | the human enzyme harbors a conserved nitroreductase domain | Homo sapiens |
physiological function | the thyroidal enzyme deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone, function and proposed components of the iodotyrosine deiodinase system, overview | Homo sapiens |