LH1

Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:10686424, PubMed:15854030, PubMed:8621606). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable).

Ehlers-Danlos syndrome, kyphoscoliotic type, 1

EDSKSCL1

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe.

None

The disease is caused by variants affecting the gene represented in this entry.

• Rough endoplasmic reticulum membrane
• Peripheral membrane protein
• Lumenal side

LLH, PLOD, PLOD1, Lysyl hydroxylase 1, LH1

• entrezGene:5351
• omim:153454
• swissprot:Q02809

Proteins

Immunology & Infectious Disease

83550Da