background:
DUOXA1 is a 343 amino acid multi-pass membrane protein that belongs to the DUOXA family and exists as multiple alternatively spliced isoforms. Expressed almost exclusively in thyroid tissue, but also present in esophageal tissue, DUOXA1 interacts with NUMB and is thought to be essential for the maturation and transport of functional DUOX1 from the endoplasmic reticulum to the plasma membrane. The gene encoding DUOXA1 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:
May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.
Subunit:
May interact with NUMB.
Subcellular Location:
Membrane; Multi-pass membrane protein
Tissue Specificity:
Specifically expressed in thyroid gland. Also detected in esophagus.
Similarity:
Belongs to the DUOXA family.
Database links:
UniProtKB/Swiss-Prot: Q1HG43.1
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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