DUOXA1
dual oxidase maturation factor 1
Summary
Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4774518 | 15:45,409,472 | C/G | stop gained | pathogenic |
| rs535825448 | 15:45,409,858 | G/A | — | uncertain significance |
| rs1250402730 | 15:45,409,927 | C/G | — | uncertain significance |
| rs754722228 | 15:45,409,979 | C/A | — | uncertain significance |
| rs1894778843 | 15:45,410,104 | G/T | — | uncertain significance |
| rs539303798 | 15:45,410,237 | G/T | — | uncertain significance |
| rs374524880 | 15:45,411,377 | G/C | — | uncertain significance |
| rs200256639 | 15:45,411,385 | C/A | — | uncertain significance |
| rs201535627 | 15:45,411,420 | G/A | — | uncertain significance |
| rs772024127 | 15:45,411,423 | G/T | — | uncertain significance |
| rs2504858797 | 15:45,411,438 | C/T | — | uncertain significance |
| rs779985265 | 15:45,411,530 | G/A | — | likely benign |
| rs564524035 | 15:45,411,552 | C/A | — | uncertain significance |
| rs777904853 | 15:45,412,310 | A/T | — | uncertain significance |
| rs2504876345 | 15:45,412,318 | C/G | — | uncertain significance |
| rs2504876400 | 15:45,412,324 | G/A | — | uncertain significance |
| rs1009326616 | 15:45,412,325 | C/T | — | uncertain significance |
| rs146181954 | 15:45,412,333 | T/C | — | likely benign |
| rs755147038 | 15:45,412,395 | C/A | — | uncertain significance |
| rs775613764 | 15:45,412,832 | C/T | — | uncertain significance |
| rs201168457 | 15:45,412,871 | G/T | — | uncertain significance |
| rs150765255 | 15:45,412,888 | G/T | — | uncertain significance |
| rs75981505 | 15:45,412,946 | C/A | — | benign |
| rs114206612 | 15:45,412,947 | G/A | — | likely benign |
| rs1262752534 | 15:45,414,431 | A/G | — | uncertain significance |
| rs762424636 | 15:45,415,067 | G/A | — | likely benign |
| rs771626824 | 15:45,415,077 | G/A | — | uncertain significance |
| rs199999224 | 15:45,415,101 | A/G | — | uncertain significance |
| rs766645763 | 15:45,415,136 | C/T | — | uncertain significance |
| rs753775496 | 15:45,415,149 | T/C | — | uncertain significance |
| rs1444709806 | 15:45,415,153 | C/T | — | uncertain significance |
| rs558188847 | 15:45,419,432 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.