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Literature summary for 2.4.2.26 extracted from

  • Ambrosius, M.; Kleesiek, K.; Goetting, C.
    The xylosyltransferase I gene polymorphism c.343G-T (p.A115S) is associated with decreased serum glycosaminoglycan levels (2009), Clin. Biochem., 42, 1-4.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
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Homo sapiens
-

Synonyms

Synonyms Comment Organism
XT-I
-
Homo sapiens
XT-II
-
Homo sapiens
xylosyltransferase
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Homo sapiens
xylosyltransferase I
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Homo sapiens
XYLT1
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Homo sapiens
XYLT2
-
Homo sapiens

General Information

General Information Comment Organism
physiological function the single nucleotide polymorphism c.343G-T in XYLT1 exon 1 correlates with a significantly decreased glycosaminoglycan content in the serum of healthy blood donors. The two XYLT2 variations (c.166G-A in exon 2 and c.1253C-T in exon 6) reveal no changes in the serum glycosaminoglycan amount Homo sapiens