Exostosin-1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''EXT1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene encodes one of the two
endoplasmic reticulum-resident type II transmembrane
glycosyltransferase
Glycosyltransferases (GTFs, Gtfs) are enzymes (EC 2.4) that establish natural glycosidic linkages. They catalyze the transfer of saccharide moieties from an activated nucleotide sugar (also known as the "glycosyl donor") to a nucleophilic glyco ...
– the other being
EXT2
The ext2 or second extended file system is a file system for the Linux kernel. It was initially designed by French software developer Rémy Card as a replacement for the extended file system (ext). Having been designed according to the same ...
– 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 as 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
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses ( exostoses) in relation to the ends of long bones of the lower li ...
type 1
References
Further reading
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External links
Multiple Hereditary Exostoses Research Foundation
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