DUOXA2 gene

dual oxidase maturation factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Thyroglobulin synthesis defect

From UniProt:

Thyroid dyshormonogenesis 5 (TDH5): A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism. [MIM:274900]

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1

Molecular Location: base pairs 45,114,321 to 45,118,106 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1
  • SIMNIPHOM
  • TDH5