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Mutations in the genes for thyroglobulin (show TG ELISA Kits) and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability
Studies suggest that Thyroid Peroxidase autoantibodies in early to mid-pregnancy is associated with concurrent depression and may be predictive of depression in the postpartum period.
Anti-thyroid peroxidase (TPO) antibodies and male gender were significantly associated with glucose impairment in patients with beta thalassemia major.
Lower pretreatment serum CXCL10 (show CXCL10 ELISA Kits) levels are associated with thyroid dysfunction. Thyroid dysfunction prevalence increases in female patients and patients who are positive for TPOAb at baseline.
Two novel inactivating mutations (c.1970T> C and c.2665G> T) in the TPO (show THPO ELISA Kits) gene cause congenital hypothyroidism.
function and autoantigenicity of TPO (show THPO ELISA Kits)
This study confirms the pathogenicity of Y55X mutation in two patients with congenital hypothyroidism and demonstrates that a nonsense mutation in the amino-terminal coding region of the TPO (show THPO ELISA Kits) gene could totally abolish the function of the TPO (show THPO ELISA Kits) enzyme leading to total iodide organification defect.
analysis of thyroid peroxidase autoantibody levels in type 1 diabetes in discordant twin pairs
Data show that thyroperoxidase (TPO) single nucleotide polymorphisms (SNPs) rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the congenital hypothyroidism (CH).
A single base deletion in the carboxyl-terminal coding region of the TPO (show THPO ELISA Kits) gene could cause congenital hypothyroidism and helps to establish a genotype/phenotype correlation associated with the mutation.
Hearing impairment in hypothyroid dwarf (show POU1F1 ELISA Kits) mice caused by mutations of the thyroid peroxidase gene.
Findings demonstrate a novel aspect of murine and human thyroid autoimmunity, namely breaking B cell self-tolerance occurs first for Tg and subsequently for TPO (show THPO ELISA Kits).
A novel hypothyroid dwarfism is due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse.
TPO gene was mapped
This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined.
, thyroid peroxidase-like
, thyroid microsomal antigen
, thyroid peroxidase (332 AA)