PAX8

Paired box gene 8, also known as PAX8, is a is_associated_with::protein which in humans is encoded by the PAX8 is_associated_with::gene.

Function
This gene is a member of the paired box (PAX) family of is_associated_with::transcription factors. Members of this gene family typically encode proteins which contain a is_associated_with::paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Also functions in very early stages of kidney organogenesis, the mullerian system, and the thymus.

Clinical significance
Mutations in this gene have been associated with is_associated_with::thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular is_associated_with::thyroid adenomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. A fusion protein, PAX8-PPAR-γ, is implicated in some follicular thyroid carcinomas and follicular-variant papillary thyroid carcinoma.

Interactions
PAX8 has been shown to interact with is_associated_with::NK2 homeobox 1.