Aliases for P3H2 Gene
External Ids for P3H2 Gene
Previous HGNC Symbols for P3H2 Gene
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]
GeneCards Summary for P3H2 Gene
P3H2 (Prolyl 3-Hydroxylase 2) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is CRTAP.
UniProtKB/Swiss-Prot for P3H2 Gene
Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V.