Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism | Zendy

I. Zamproni | Zendy; Helmut Grasberger | Zendy; Francesca Cortinovis | Zendy; Maria Cristina Vigone | Zendy; G Chiumello | Zendy; Stefano Mora | Zendy; Kazumichi Onigata | Zendy; Laura Fugazzola | Zendy; Samuel Refetoff | Zendy; Luca Persani | Zendy; Giovanna Weber | Zendy

Open Access

Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism

Author(s) -

I. Zamproni,

Helmut Grasberger,

Francesca Cortinovis,

Maria Cristina Vigone,

G Chiumello,

Stefano Mora,

Kazumichi Onigata,

Laura Fugazzola,

Samuel Refetoff,

Luca Persani,

Giovanna Weber

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-2020

Subject(s) - organification , congenital hypothyroidism , thyroglobulin , nonsense mutation , mutation , compound heterozygosity , endocrinology , mutant , proband , medicine , genetics , thyroid , biology , missense mutation , gene

Dual oxidase 2 (DUOX2) is the catalytic core of the H(2)O(2) generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research