PAX8 Antibody – Mouse Monoclonal

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a 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. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

PAX8: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. Interacts with WWTR1. Expressed in the excretory system, thyroid gland and Wilms tumors. 5 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 2q14.1

Cellular Component: nucleoplasm; nucleus

Molecular Function: DNA binding; protein binding; thyroid-stimulating hormone receptor activity; transcription factor activity

Biological Process: anatomical structure morphogenesis; central nervous system development; inner ear morphogenesis; kidney development; mesonephros development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; pronephros development; regulation of apoptosis; thyroid gland development; transcription, DNA-dependent; ureteric bud branching; urogenital system development

Disease: Hypothyroidism, Congenital, Nongoitrous, 2