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TTR

Domain

Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid. Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex beta-sheets of the dimers to form an internal channel.

Function

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.

Involvement in disease

Amyloidosis, hereditary systemic 1

AMYLD1

A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.

None

The disease is caused by variants affecting the gene represented in this entry.

Hyperthyroxinemia, dystransthyretinemic

DTTRH

A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.

None

The disease is caused by variants affecting the gene represented in this entry.

Carpal tunnel syndrome 1

CTS1

A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYLD1 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B-containing OST complex, leading to its degradation by the ER-associated degradation (ERAD) pathway.

Sulfonation of the reactive cysteine Cys-30 enhances the stability of the native conformation of TTR, avoiding misassembly of the protein leading to amyloid formation.

Sequence similarities

Belongs to the transthyretin family.

Tissue specificity

Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver.

Cellular localization

  • Secreted
  • Cytoplasm

Alternative names

  • PALB
  • TTR
  • PALB
  • Transthyretin
  • ATTR
  • Prealbumin
  • TBPA

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

15887Da

We found 42 products in 3 categories

Assay Kits

Target

Reactive species

Detection method

Proteins & Peptides

Target

Species of origin

Nature