DISEASES

Disease-gene associations mined from literature

Literature associating P3H4 and membranous glomerulonephritis

P3H4 [ENSP00000347649]

Endoplasmic reticulum protein SC65; 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-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly; Belongs to the leprecan family.

Synonyms:  P3H4,  P3H4p,  hP3H4,  H0YED7,  K7EJ03 ...

Linkouts:  STRING  Pharos  UniProt