EXTL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | EXTL3 , BOTV, EXTL1L, EXTR1, REGR, RPR, exostosin like glycosyltransferase 3, ISDNA | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605744 MGI: 1860765 HomoloGene: 1103 GeneCards: EXTL3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Exostosin-like 3 is a protein that in humans is encoded by the EXTL3 gene. [5] [6] [7] [8]
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 limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the World Health Organization.
Eosinophil major basic protein, often shortened to major basic protein is encoded in humans by the PRG2 gene.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2 gene.
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.
Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 is an enzyme. In humans, it is encoded by the NDST1 gene.
Integral membrane protein 2A is a protein that in humans is encoded by the ITM2A gene.
Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.
Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 is an enzyme that in humans is encoded by the HS3ST3A1 gene.
Heparan-α-glucosaminide N-acetyltransferase is an enzyme that in humans is encoded by the HGSNAT gene.
Glypican-5 is a protein that in humans is encoded by the GPC5 gene.
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 is an enzyme that in humans is encoded by the NDST2 gene.
Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 is an enzyme that in humans is encoded by the HS3ST3B1 gene. Heparan sulfate biosynthetic enzymes are key components in generating myriad distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity ( HS3ST3A1). The Sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1 and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta.
Chondrolectin is a protein that in humans is encoded by the CHODL gene. Mouse chondrolectin is encoded by Chodl.
Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene. EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.
D-glucuronyl C5-epimerase is an enzyme that in humans is encoded by the GLCE gene.
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 is an enzyme that in humans is encoded by the NDST3 gene. It catalyses the reaction:
3'-phosphoadenylyl sulfate + α-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H+ + N-sulfo-α-D-glucosaminyl-[heparan sulfate](n)
Heparan sulfate glucosamine 3-O-sulfotransferase 2 is an enzyme that in humans is encoded by the HS3ST2 gene.
Glypican-6 is a protein that in humans is encoded by the GPC6 gene.