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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
Related
PAX8 Ag in tissue
pax8 gene
General
paired box protein (PAX)
Properties
SIZE: entity length = 450 aa
MW = 48 kD
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 9-135
Thr phosphorylation site {T279}
Thr phosphorylation site {T283}
serine-rich region {315-327}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM 167415
UniProt Q06710
Pfam PF00292
Entrez Gene 7849
Kegg hsa:7849
References
- UniProt :accession Q06710
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX8