Exostosin-1 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 ''EXT1''
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 ...
.
This gene encodes one of the two
endoplasmic reticulum
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...
-resident type II transmembrane
glycosyltransferase – the other being
EXT2
ext2, or second extended file system, is a file system for the Linux kernel (operating system), kernel. It was initially designed by French software developer Rémy Card as a replacement for the extended file system (ext). Having been designed ...
– which are involved in the chain elongation step of
heparan sulfate
Heparan sulfate (HS) is a linear polysaccharide found in all animal tissues. It occurs in a proteoglycan (HSPG, i.e. Heparan Sulfate ProteoGlycan) in which two or three HS chains are attached in close proximity to cell surface or extracellular ma ...
biosynthesis. Mutations in this gene cause the type I form of
multiple exostoses.
Interactions
EXT1 has been shown to
interact with
TRAP1.
See also
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Langer–Giedion syndrome
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Hereditary multiple exostoses type 1
References
Further reading
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External links
Multiple Hereditary Exostoses Research Foundation
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