{"symbol":"P3H2","synonyms":["MCVD","LEPREL1","MLAT4"],"name":"prolyl 3-hydroxylase 2","description":"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]","ncbiEntrezGeneId":55214,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55214","proteins":[{"symbol":"P3H2_HUMAN","href":"/api/1.0/protein/P3H2_HUMAN"}],"hgncRootFamilies":[]}