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Literature summary extracted from

  • Mordechai, S.; Gradstein, L.; Pasanen, A.; Ofir, R.; El Amour, K.; Levy, J.; Belfair, N.; Lifshitz, T.; Joshua, S.; Narkis, G.; Elbedour, K.; Myllyharju, J.; Birk, O.S.
    High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 (2011), Am. J. Hum. Genet., 89, 438-445.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
1.14.11.28 G508V mutation is associated with high myopia in human. Mutant G508V expressed in insect cells is completely inactive Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.14.11.28 Homo sapiens
-
-
-

Synonyms

EC Number Synonyms Comment Organism
1.14.11.28 Leprel1
-
 Homo sapiens
1.14.11.28 P3H2
-
 Homo sapiens
1.14.11.28 prolyl 3-hydroxylase 2
-
 Homo sapiens