paired box protein PAX8 (PAX8)

Function

• transcription factor for thyroid-specific expression of the genes exclusively expressed in the thyroid, maintaining the functional differentiation of such cells

Structure

contains 1 paired domain

Compartment

nucleus

Alternative splicing

named isoforms=5

Expression

• expressed in the excretory system, thyroid gland & Wilms tumors
• expressed in developing excretory system, during thyroid differentiation & in adult thyroid

Pathology

• defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2

More general terms

• paired box protein (PAX)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7849
• OMIM: https://mirror.omim.org/entry/167415
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7849
• UniProt: http://www.uniprot.org/uniprot/Q06710.html