This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
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Protein Aliases: leprecan-like 1; Leprecan-like protein 1; myxoid liposarcoma associated protein 4; Myxoid liposarcoma-associated protein 4; procollagen-proline 3-dioxygenase 2; Prolyl 3-hydroxylase 2; prolyl 3-hydroxylase 3
Gene Aliases: 4832416N06; AW553532; LEPREL1; MCVD; MLAT4; P3H2