P3H2 gene

prolyl 3-hydroxylase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Myopia, high, with cataract and vitreoretinal degeneration

From UniProt:

Myopia, high, with cataract and vitreoretinal degeneration (MCVD): A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. [MIM:614292]

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28

Molecular Location: base pairs 189,956,728 to 190,122,437 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28
  • LEPREL1
  • MCVD
  • MLAT4