LEPREL1 Antibody

1. Data identified an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. PMID: 29956121
2. Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation. PMID: 25469533
3. 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. PMID: 24172257
4. 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. PMID: 25525168
5. High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. PMID: 21885030
6. P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains PMID: 21757687
7. P3H2 is responsible for the hydroxylation of collagen IV, 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. PMID: 18487197
8. 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. PMID: 19436308

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HGNC: 19317

OMIM: 610341

KEGG: hsa:55214

STRING: 9606.ENSP00000316881

UniGene: Hs.374191