基因名：
P3H2
产品别名：
LEPREL1； MCVD； MLAT4； P3H2； prolyl 3-hydroxylase 2； prolyl 3-hydroxylase 2； prolyl 3-hydroxylase 2； leprecan-like 1； myxoid liposarcoma-associated protein 4； procollagen-proline 3-dioxygenase 2； prolyl 3-hydroxylase 3； LEPREL1蛋白； 皮屑蛋白样蛋白1(LEPREL1)；
背景信息：
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. [provided by RefSeq, Dec 2011]
