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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| P3H2-20-RE | 20 (40 μL) | 200 μL |  |
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| P3H2-20-OR | 20 (40 μL) | 200 μL |  |
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| P3H2-20-GO | 20 (40 μL) | 200 μL |  |
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| P3H2-20-GR | 20 (40 μL) | 200 μL |  |
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| P3H2-20-AQ | 20 (40 μL) | 200 μL |  |
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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 Symbol : P3H2
Gene Name : Prolyl 3-hydroxylase 2
Chromosome : CHR 3: 190,122,436-189,956,727
Locus : 3q28
Alt. Genes : KIF20A
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