Recombinant Human Prolyl 3-hydroxylase 2 (LEPREL1)

Uniprot Id

Q8IVL5

Target Species

Human

Target Name

P3H2

Target Full Name

Prolyl 3-hydroxylase 2

Target Function

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule. Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4-hydroxyproline in the third position.

Target Involvement

Myopia, high, with cataract and vitreoretinal degeneration (MCVD)

Target Subcellular Location

Endoplasmic reticulum. Sarcoplasmic reticulum. Golgi apparatus.

Target Protein Families

Leprecan family

Target Tissue Specificity

Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells (at protein level).

Target Synonyms

4832416N06; AW553532; Leprecan like 1; Leprecan-like protein 1; Leprel1; MCVD; MLAT4; Myxoid liposarcoma-associated protein 4; P3H2; P3H2_HUMAN; Prolyl 3 hydroxylase 3; Prolyl 3-hydroxylase 2

Target Background

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.