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Literature summary for 1.14.11.4 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 1.14.11.4

Protein Variants

Protein Variants Comment Organism
additional information mutations in the LH3 gene cause connective tissue disorder. Genotype-phenotype analysis of PLOD3 mutations, phenotypes, detailed overview Homo sapiens
additional information A668G, higher apparent molecular mass, reduced collagen galctosyltransferase, EC 2.4.1.50, and reduced glucosyltransferase activity, EC 2.4.1.66, about 50% decreased lysyl hydroxylase activity Homo sapiens
additional information delT2071, lower apparent molecular mass, reduced collagen galctosyltransferase, EC 2.4.1.50, and reduced glucosyltransferase activity, EC 2.4.1.66, complete loss of lysyl hydroxylase activity Homo sapiens

Molecular Weight [Da]

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens LH3 is responsible for hydroxylysine formation and also for hydroxylysine glycosylations in polypeptides, enzyme mutations cause a severe phenotype, detailed overview ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 isozyme LH3
-
Homo sapiens O60568
-
-

Source Tissue

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information LH3 is responsible for hydroxylysine formation and also for hydroxylysine glycosylations in polypeptides, enzyme mutations cause a severe phenotype, detailed overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
LH3
-
 Homo sapiens
lysyl hydroxylase 3
-
 Homo sapiens
lysyl hydroxylase 3 with lysyl hydroxylase, collagen galactosyltransferase and glucosylransferase activities Homo sapiens
More the enzyme is a member of the 2-oxoglutarate-dependent dioxygenase family Homo sapiens
PLOD3
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the LH3 gene cause connective tissue disorder Homo sapiens
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