" /> TPO wt Allele - CISMeF





Preferred Label : TPO wt Allele;

NCIt synonyms : Thyroid Peroxidase wt Allele; TPX; MSA; TDH2A;

NCIt definition : Human TPO wild-type allele is located within 2p25 and is approximately 129 kb in length. This allele, which encodes thyroid peroxidase protein, plays a role in biosynthesis of thyroxine and triiodothyronine. Heritable polymorphisms in the TPO gene commonly result in total iodine organification defect which, in turn, causes severe congenital hypothyroidism.;

NCIt note : An alternative splicing in the TPO mRNA transcript is associated with Grave's disease. The TPO gene encodes 8 or more isoforms of thyroid peroxidase protein.;

GenBank Accession Number : NM_000547;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :


Nous contacter.
14/05/2024


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.