KEGG   DISEASE: H01192Help
Entry
H01192                      Disease                                

Name
Lysyl hydroxylase 3 (LH3) deficiency;
Bone fragility with contractures arterial rupture and deafness
Description
Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.
Category
Connective tissue disease
BRITE hierarchy
Pathway
Lysine degradation
Other types of O-glycan biosynthesis
Gene
PLOD3 [HSA:8985] [KO:K13646]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R
  Title
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
  Journal
Am J Hum Genet 83:495-503 (2008)

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