Preferred Label : TTR wt Allele;
NCIt synonyms : TBPA; Transthyretin wt Allele; PALB; HsT2651; Prealbumin, Amyloidosis Type I Gene; Prealbumin, Thyroxine-Binding Gene; CTS1; CTS; HEL111; ATTR; Carpal Tunnel Syndrome 1 Gene; Epididymis Luminal Protein 111 Gene;
NCIt definition : Human TTR wild-type allele is located in the vicinity of 18q12.1 and is approximately
7 kb in length. This allele, which encodes transthyretin protein, plays a role in
the stabilization and transport of thyroxine and retinol. Mutations in the gene are
associated with hyperthyroxinemia and amyloidosis types 1 and 7.;
NCIt note : More than 80 different mutations in the TTR gene have been reported. Most mutations
are related to amyloid deposition but a few mutations are non-amyloidogenic. The diseases
associated with TTR gene mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia,
amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular
amyloidosis, carpal tunnel syndrome. (Entrez Gene);
GenBank Accession Number : M10605;
Origin ID : C79963;
UMLS CUI : C2699876;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_involved_in_pathogenesis_of_disease
- gene_plays_role_in_process
