Viral Details

Viral Backbone

Recombinant AAV

AAV-ITR

AAV2

AAV Serotype

Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids

Promoter

CMV (default), or choose from 30 different ubiquitous or cell specific promoter

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

PBS/5% Glycerol

Gene Details

Species

Human

Gene Symbol

P3H1

Gene Name

prolyl 3-hydroxylase 1

Gene ID

64175

Gene Synonyms

GROS1; LEPRE1; OI8

ORF Size

2094 bp

RefSeq#

BC108311

Gene Description

LEPRE1 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.

UniGene ID

Hs.437656

HGNC ID

HGNC:19316