transthyretin
Última actualización 8 Nov 2023
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The TTR gene provides instructions for making a protein called transthyretin. This protein transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer). To transport retinol, transthyretin must form a tetramer and bind to another protein called retinol-binding protein. Transthyretin is produced primarily in the liver, and a small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).
Normal function
The TTR gene provides instructions for making a protein called transthyretin. This protein transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer). To transport retinol, transthyretin must form a tetramer and bind to another protein called retinol-binding protein. Transthyretin is produced primarily in the liver, and a small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).
Conditions referring to this gene or chromosome
Otros nombres
ATTR
PALB
prealbumin, amyloidosis type I
TBPA
TTHY_HUMAN
Lecturas adicionales y referencias
- transthyretin; MedlinePlus, National Library of Medicine.
- Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007 Oct;36(4):411-23. doi: 10.1002/mus.20821.
- Buxbaum J, Koziol J, Connors LH. Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity. Amyloid. 2008 Dec;15(4):255-61. doi: 10.1080/13506120802525285.
- Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J. 2007 Apr;274(7):1637-50. doi: 10.1111/j.1742-4658.2007.05712.x.
- Saraiva MJ. Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. Expert Rev Mol Med. 2002 May 14;4(12):1-11. doi: 10.1017/S1462399402004647.
- Wiseman RL, Powers ET, Kelly JW. Partitioning conformational intermediates between competing refolding and aggregation pathways: insights into transthyretin amyloid disease. Biochemistry. 2005 Dec 20;44(50):16612-23. doi: 10.1021/bi0511484.
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