TTR
From SNPedia
is a | gene |
is | mentioned by |
Full name | transthyretin |
EntrezGene | 7276 |
PheGenI | 7276 |
VariationViewer | 7276 |
ClinVar | TTR |
GeneCards | TTR |
dbSNP | 7276 |
Diseases | TTR |
SADR | 7276 |
HugeNav | 7276 |
wikipedia | TTR |
TTR | |
gopubmed | TTR |
EVS | TTR |
HEFalMp | TTR |
MyGene2 | TTR |
23andMe | TTR |
UniProt | P02766 |
Ensembl | ENSG00000118271 |
OMIM | 176300 |
# SNPs | 64 |
Located on chromosome 18, the TTR gene encodes the transthyretin protein, a transport protein in the serum and cerebrospinal fluid that carries the thyroid hormone thyroxine (T4) and retinol-binding protein bound to retinol. Mutations in the TTR gene may lead to several forms of amyloidosis.Wikipedia
Three such mutations account for roughly 50 - 80% of all TTR-related hereditary amyloidosis cases; these are:
- rs76992529: aka VI122I, most common in African Americans and people of West African descent
- rs28933979: aka V30M, most common in people of Portuguese, Northern Swedish, and Japanese descent
- rs121918070: aka T60A, most common in people of Irish and British descent.