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P3H2 / LEPREL1 is 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.
Gene Name: | Leprecan-like 1 |
Synonyms: | P3H2, Leprecan-like protein 1, LEPREL1, Prolyl 3-hydroxylase 2, Prolyl 3-hydroxylase 3, Leprecan-like 1, p3H2, MCVD, MLAT4 |
Target Sequences: | NM_018192 NP_060662.2 Q8IVL5 |
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