P3H2, Official Symbol P3H2provided by HGNC Official Full Name prolyl 3-hydroxylase 2provided by HGNC Primary source HGNC:HGNC:19317 See related Ensembl:ENSG00000090530 MIM:610341; AllianceGenome:HGNC:19317 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCVD; MLAT4; LEPREL1 Summary 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] Expression Broad expression in prostate (RPKM 22.0), kidney (RPKM 21.3) and 20 other tissues See more Orthologs mouse all