Gene: P3H2

Alternate names for this Gene: LEPREL1|MCVD|MLAT4

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q28

Description of this Gene: prolyl 3-hydroxylase 2

Type of Gene: protein-coding