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Immunogen sequence: ANPEHMEMQQ NIENYRATAG VEALQLVDRE AKPHMESYNA GVKHYEADDF EMAIRHFEQA LREYFVEDTE CRTLCEGPQR FEEYEYLGYK AGLYEAIADH YMQVLVCQHE CV^M
^M
Highest antigen sequence identity to the following orthologs: Mouse - 86%, Rat - 86%.
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; procollagen-proline 3-dioxygenase 2; Prolyl 3-hydroxylase 2; prolyl 3-hydroxylase 3
Gene Aliases: LEPREL1; MCVD; MLAT4; P3H2
UniProt ID: (Human) Q8IVL5
Entrez Gene ID: (Human) 55214
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