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

swissprot:Q06710 omim:167415 entrezGene:7849

Other research areas

• Oncology