background:
DUOXA2 is a 64 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum (ER) and belongs to the DUOXA family. Expressed specifically in thyroid and salivary glands, DUOXA2 is essential for the maturation and transport of DUOX2 from the ER to the plasma membrane and is also thought to play a role in the synthesis of thyroid hormone (TH). Defects in the DUOXA2 gene are associated with the pathogenesis of congenital hypothyroidism, a disorder that affects infants and is characterized by a significant decrease or a complete deficiency of TH from birth. The gene encoding DUOXA2 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.
Function:
Function: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue Specificity:
Specifically expressed in thyroid. Also detected in salivary glands.
[PTM] N-glycosylated.
DISEASE:
Defects in DUOXA2 are the cause of thyroid dyshormonogenesis 5 (TDH5) [MIM:27980]. A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism
Similarity:
Belongs to the DUOXA family.
Database links:
Entrez Gene: 405753 Human
Omim: 612772 Human
SwissProt: Q1HG44 Human
Unigene: 497987 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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