DISEASES

Disease-gene associations mined from literature

Literature associating LEPREL2 and adult spinal muscular atrophy

LEPREL2 [ENSP00000478600]

Leprecan-like protein 2; 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. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it functions redundantly with other prolyl 3-hydroxylases.

Synonyms:  LEPREL2,  LEPREL2p,  hLEPREL2,  G8JLI6,  LEPREL2-001 ...

Linkouts:  STRING  Pharos  UniProt