P3H2, prolyl 3-hydroxylase 2

P3H2, prolyl 3-hydroxylase 2

• 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]

• Gene Synonyms (LEPREL1, MCVD, MLAT4, prolyl 3-hydroxylase 2, leprecan-like 1, myxoid liposarcoma-associated protein 4, procollagen-proline 3-dioxygenase 2, prolyl 3-hydroxylase 3,)
• NCBI Gene ID: 55214
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8IVL5
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

prolyl 3-hydroxylase 2 interacts with:

• KRAB-A domain containing 1
  serine and arginine-rich splicing factor 1

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