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Article

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

The Journal of clinical endocrinology and metabolism - 1 Aug 2014

Prasad Rathi, Chan Li F, Hughes Claire R, Kaski Juan P, Kowalczyk Julia C, Savage Martin O, Peters Catherine J, Nathwani Nisha, Clark Adrian J L, Storr Helen L, Metherell Louise A

Abstract excerpt

CONTEXT: Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of redox regulation in steroidogenesis. OBJECTIVE: We hypothesized that other components of mitochondrial antioxidant...

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Identifiers

PMID: 24601690
DOI: 10.1210/jc.2013-3844
PMCID: PMC4207928

Genes

TXNRD2

Variants

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