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:

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197).

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