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Literature summary for 2.4.1.50 extracted from

  • Salo, A.M.; Cox, H.; Farndon, P.; Moss, C.; Grindulis, H.; Risteli, M.; Robins, S.P.; Myllylae, R.
    A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene (2008), Am. J. Hum. Genet., 83, 495-503.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.4.1.50

Protein Variants

Protein Variants Comment Organism
additional information A668G, higher apparent molecular mass, about 90% reduced collagen galctosyltransferase activity and reduced glucosyltransferase activity, EC 2.4.1.66, about 50% decreased lysyl hydroxylase activity, EC 1.14.11.4 Homo sapiens
additional information delT2071, lower apparent molecular mass, about 60% reduced collagen galctosyltransferase activity and reduced glucosyltransferase activity, EC 2.4.1.66, complete loss of lysyl hydroxylase activity, EC 1.14.11.4 Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
80000
-
 value about, Western blot Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphoblastoid cell line
-
 Homo sapiens
-
serum
-
 Homo sapiens
-

General Information

General Information Comment Organism
malfunction disorders of LH3 with a unique phenotype causing severe morbidity as a result of feauters that overlap with collagen disorders Homo sapiens
physiological function forms part of the many posttranslational modifications required during collagen biosynthesis Homo sapiens