Protein Name prolyl 3-hydroxylase 2
Organism Homo sapiens
Gene ID 55214
Gene Symbol

P3H2

UniProt Q8IVL5 (P3H2_HUMAN)
Relationships Total Number of functionally related compound(s) : 16
Total Number of Articles : 12
Description

prolyl 3-hydroxylase 2

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. [provided by RefSeq, Dec 2011]

synonyms
  • prolyl 3-hydroxylase 2
  • leprecan-like 1
  • myxoid liposarcoma-associated protein 4
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Properties