TTR Chromosome 18
Transthyretin
Upload your DNA to see your personal genotypes for variants in TTR.
What This Gene Does
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000118271
Associated Conditions (19)
Cardiomyopathy
Amyloidosis
hereditary systemic 1
Cardiovascular phenotype
TTR-related disorder
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia
dystransthyretinemic
Hyperthyroidism
AMYLOIDOSIS
HEREDITARY SYSTEMIC 1
MODIFIER OF
Hypertrophic cardiomyopathy
Tip-toe gait
Carpal tunnel syndrome
Heart failure
Hereditary amyloidosis
ATTRV122I amyloidosis
Key Variants
RS112263266
Conflicting classifications of pathogenicity
Cardiomyopathy, Amyloidosis, hereditary systemic 1
Health Risk
RS11541793
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS11541797
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Amyloidosis
Health Risk
RS121918095
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS138065384
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease
Health Risk
RS138657343
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Amyloidosis, hereditary systemic 1
Health Risk
RS143906738
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease
Health Risk
RS145551875
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS1555631417
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS1567946170
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS2073510448
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS2073528142
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
All Variants (122)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918085 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS121918089 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS121918090 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS121918100 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS1254341785 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS1555631402 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS1598844112 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS1598844187 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Amyloidosis |
| RS1598845164 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Hereditary amyloidosis |
| RS2073493951 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS2073494217 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS2073510805 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease |
| RS2144409459 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS2144414426 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Amyloidosis |
| RS267607161 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS730881163 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS730881168 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS730881169 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Amyloidosis |
| RS751430411 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS76992529 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiomyopathy |
| RS876661395 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |
| RS958191819 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, hereditary systemic 1, Cardiovascular phenotype |