Exostosin-Like 2

Preferred Label : Exostosin-Like 2;

NCIt synonyms : EXTL2; Alpha-GalNAcT EXTL2; Alpha-1,4-N-acetylhexosaminyltransferase EXTL2; EXT-Related Protein 2; EC 2.4.1.223; Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase; Exostosin-Like 2 Protein; Exostosin-Like-2 Protein;

NCIt definition : Exostosin-like 2 (330 aa, 37 kDa) is encoded by the human EXTL2 gene. This protein plays a role in glycosaminoglycan biosynthesis and heparan sulfate modification.;

NCIt note : A soluble form of exostosin-like 2, which is a result of proteolytic processing, is found in serum. (UniProt); Exostosin-like 2 is a type II membrane protein glycosyltransferase of the endoplasmic reticulum that initiates heparan sulfate/heparin biosynthesis by alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate and heparin chains.;

Details

Origin ID

C26137;

UMLS CUI

C1308415;

OMIM relation
- Exostosin-like glycosyltransferase 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- EXTL2 protein, human [MeSH concept]
- EXTL2 protein, human [MeSH Supplementary Concept]
gene_encodes_gene_product
- EXTL2 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Glycosyltransferase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Endoplasmic Reticulum [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_product_plays_role_in_biological_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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