Literature summary for 1.14.11.4 extracted from

Walker, L.C.; Overstreet, M.A.; Siddiqui, A.; De Paepe, A.; Ceylaner, G.; Malfait, F.; Symoens, S.; Atsawasuwan, P.; Yamauchi, M.; Ceylaner, S.; Bank, R.A.; Yeowell, H.N.
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient (2005), J. Invest. Dermatol., 124, 914-918.

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Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination and analysis of mutant DNA from an Ehlers-Danlos syndrome type IVA patient, expression of mutant enzyme W446G in an insect cell system via baculovirus infection	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
W446G	naturally occurring mutation T1360G in a highly conserved region of exon 13 of isozyme LH1 in skin fibroblasts is predicted to lead to the W446G exchange in heterozygous Ehlers-Danlos syndrome type IVA, leads to loss of enzyme activity and causes the pathogenic effect probably due to incorect folding of isozyme LH1, structure-function analysis	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	Ehlers-Danlos syndrome type VIA patients show highly reduced enzyme activity	?	-	?
procollagen L-lysine + 2-oxoglutarate + O2	Homo sapiens	-	procollagen 5-hydroxy-L-lysine + succinate + CO2	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	isozyme lysyl hydroxylase 1, i.e. LH1, Ehlers-Danlos syndrome type VIA patients	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	skin	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	Ehlers-Danlos syndrome type VIA patients show highly reduced enzyme activity	Homo sapiens	?	-	?
procollagen L-lysine + 2-oxoglutarate + O2	-	Homo sapiens	procollagen 5-hydroxy-L-lysine + succinate + CO2	-	?

Synonyms

Synonyms	Comment	Organism
LH	-	Homo sapiens
lysyl hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)