PAX8

In developing excretory system, during thyroid differentiation and in adult thyroid.

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

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.

Expressed in the excretory system, thyroid gland and Wilms tumors.

• Nucleus

Paired box protein Pax-8, PAX8

• entrezGene:7849
• omim:167415
• swissprot:Q06710

Proteins

Epigenetics

• Oncology

48218Da