Memorial Day Offer

Discover your mystery discount!

PAX8

PAX8 Overview: – Member of PAX gene family of transcription factors – Encodes proteins with paired box domain, octapeptide, paired-type homeodomain – Role in tissue […]

« Back to Glossary Index

PAX8 Overview:
– Member of PAX gene family of transcription factors
– Encodes proteins with paired box domain, octapeptide, paired-type homeodomain
– Role in tissue and organ formation during embryonic development
– Involved in thyroid follicular cell development and expression of thyroid-specific genes
– Expressed in various tissues like endocervix, ovary, pancreas, and lymphoid cells

PAX8 Clinical Significance:
– Associated with congenital hypothyroidism due to thyroid dysgenesis
– Mutations in PAX8 gene can disrupt normal development
– Deficiencies can lead to Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

PAX8 in Cancer:
– PAX8 mutations linked to various cancer types
– Acts as a master regulator transcription factor
– Implicated in follicular thyroid carcinomas and papillary thyroid carcinoma
– Associated with renal tumors, ovarian cancer, and Müllerian carcinomas
– Expression induced during cervical cancer development

PAX8 Mechanisms:
– Regulates expression of genes beyond thyroid-specific
– Involvement in thyroid tumor development from follicular cells
– Fusion protein PAX8-PPAR-γ in follicular thyroid carcinomas
– Possible mechanisms include inhibition of normal PPARγ function
– Downregulation of PAX gene expression inhibits cell growth and induces apoptosis

PAX8 Associated Cancer Types and Studies:
– Linked to thyroid dysgenesis, follicular carcinomas, and thyroid adenomas
– PAX8/PPARγ rearrangement common in follicular carcinomas
– Overexpression in renal tumors, Wilms tumors, ovarian, and Müllerian carcinomas
– Studies on thyroid hormone resistance, RAS mutations, and genomic variants associated with cancer risk

PAX8 (Wikipedia)

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

PAX8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPAX8, paired box 8, PAX-8
External IDsOMIM: 167415 MGI: 97492 HomoloGene: 2589 GeneCards: PAX8
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003466
NM_013951
NM_013952
NM_013953
NM_013992

NM_011040

RefSeq (protein)

NP_003457
NP_039246
NP_039247
NP_054698

NP_035170

Location (UCSC)Chr 2: 113.22 – 113.28 MbChr 2: 24.31 – 24.37 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
« Back to Glossary Index
This site uses cookies to offer you a better browsing experience. By browsing this website, you agree to our use of cookies.