prolyl 3-hydroxylase 1
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]
p3h1 Gene Set
genes co-occuring with the biological term p3h1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.