This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| P3H1-20-RE | 20 (40 μL) | 200 μL |  |
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| P3H1-20-OR | 20 (40 μL) | 200 μL |  |
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| P3H1-20-GO | 20 (40 μL) | 200 μL |  |
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| P3H1-20-GR | 20 (40 μL) | 200 μL |  |
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| P3H1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Gene Symbol : P3H1
Gene Name : Prolyl 3-hydroxylase 1
Chromosome : CHR 1: 427,670,83-427,463,34
Locus : 1p34.2
Alt. Genes : ENAM
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