Gene: TPO

Alternate names for this Gene: MSA|TDH2A|TPX

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.3

Description of this Gene: thyroid peroxidase

Type of Gene: protein-coding

rs1514687 in TPO gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.

rs1514687 in TPO gene and AIDS, PROGRESSION TO PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.

rs11675342 in TPO gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11675342 in TPO gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11675342 in TPO gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11675342 in TPO gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1035791118 in TPO gene and Deficiency of iodide peroxidase (disorder) PMID 12938097 2003 Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

PMID 16284446 2005 Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

PMID 12213873 2002 High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

PMID 11415848 2001 Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.

PMID 12843174 2003 Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

PMID 16684826 2006 Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

PMID 7550241 1995 Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

PMID 11061528 2000 Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

PMID 11916616 2002 Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.

PMID 12864797 2003 Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

PMID 11874711 2002 Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.

PMID 9024270 1997 Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.

PMID 9924196 1999 A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.

PMID 10468986 1999 A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.

PMID 12490071 2002 Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

PMID 10084596 1999 Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

PMID 27305979 2016 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

PMID 17468186 2007 High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

PMID 18029453 2008 Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

PMID 15745925 2005 Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

PMID 24482635 2014 Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.

PMID 14751036 2003 Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

PMID 23236987 2013 Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

PMID 25241611 2014 One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

PMID 1401057 1992 Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

PMID 27617131 2015 A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.

PMID 27373559 2016 Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

PMID 23512414 2013 Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.

rs1514687 in TPO gene and HIV-1, RESISTANCE TO PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.

rs1514687 in TPO gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.

rs11675342 in TPO gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs1514687 in TPO gene and Neuropathy PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.