Immunogen
Purified recombinant fragment of human Pax-8 expressed in E. Coli.
Specificity
Pax-8 Monoclonal Antibody detects endogenous levels of Pax-8 protein.
Formulation
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
Affinity purification
Background
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],
Function
caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,developmental stage:In developing excretory system, during thyroid differentiation and in adult thyroid.,disease:Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.,function:Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cell
Protein name
Paired box protein Pax-8
Other name
PAX8; Paired box protein Pax-8
Fields
>>Thyroid hormone synthesis;>>Pathways in cancer;>>Transcriptional misregulation in cancer;>>Thyroid cancer
Human protein sequence Database
Q06710
Mouse protein sequence database
Q00288
Rat protein sequence database
Cellular localization
Nucleus.
Tissue expression
Expressed in the excretory system, thyroid gland and Wilms tumors.
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