AMYLD1
Chr 18ADtransthyretin
Also known as: AMYLD1, ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA
The protein is transthyretin, a tetrameric carrier protein that transports thyroid hormones in plasma and cerebrospinal fluid and facilitates retinol (vitamin A) transport by associating with retinol-binding protein. Mutations cause hereditary systemic amyloidosis type 1, an autosomal dominant condition characterized by amyloid deposition that predominantly affects peripheral nerves and the heart. Additional manifestations can include vitreous opacities, cardiomyopathy, and involvement of the leptomeninges and cerebrovascular system.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/AMYLD1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AMYLD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools