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LEPREL1 encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases.
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Altered collagen prolyl 3-hydroxylation is caused by loss of P3H2.
prolyl 3-hydroxylation of type IV collagen (zeige COL4 ELISA Kits) by P3H2 has an important function preventing maternal platelet aggregation in response to the early developing embryo
P3H2 is responsible for the hydroxylation of collagen IV (zeige COL4 ELISA Kits), which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes.
Study found that all 3 mouse Leprecan genes Lepre1, leprel1 and leprel2 are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
This report characterizes expression of the P3H1, P3H2 and P3H3 genes in embryonic and adult mice.
Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation.
LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract.
mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains
The restriction of silencing in P3H2 to breast carcinomas, and its association with oestrogen-receptor-positive cases, suggests that P3H2 may be a breast-cancer-specific tumour suppressor.
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.
leprecan-like protein 1
, myxoid liposarcoma associated protein 4
, prolyl 3-hydroxylase 2
, myxoid liposarcoma-associated protein 4
, prolyl 3-hydroxylase 3