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PAX8
Developmental stage
In developing excretory system, during thyroid differentiation and in adult thyroid.
Function
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Involvement in disease
Hypothyroidism, congenital, non-goitrous, 2
CHNG2
A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue specificity
Expressed in the excretory system, thyroid gland and Wilms tumors.
Cellular localization
- Nucleus
Alternative names
- Paired box protein Pax-8
- PAX8
Database links
Target type
Proteins
Primary research area
Epigenetics
Other research areas
- Oncology
Molecular weight
48218Da