Transportin-3 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''TNPO3''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
TNPO3 is a
nuclear import receptor for serine/arginine-rich (SR) proteins, including
Serine/arginine-rich splicing factor 1, which are essential precursor-
mRNA splicing factors.
Clinical significance
The TNPO3-IRF5 locus is implicated in primary biliary cirrhosis and
systemic sclerosis
Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are tw ...
.
References
Further reading
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