LEPREL1
leprecan-like 1
Synonyms:
MCVD, MLAT4, P3H2
Species:
Human LEPREL1 (55214), Mouse Leprel1 (210530), Rat Leprel1 (288016), chicken LEPREL1 (414143), Zebrafish leprel1 (100034443), domestic cat LEPREL1 (101094873), dog LEPREL1 (478674), sheep LEPREL1 (101108618), cow LEPREL1 (511799), Horse LEPREL1 (100059777) ...More
UniProtKB ID:
Gene ID:
- Human(55214) Summary: 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. [provided by RefSeq, Dec 2011]
- Mouse(210530) leprecan-like 1
- Rat(288016) leprecan-like 1
- chicken(414143) leprecan-like 1
- Zebrafish(100034443) leprecan-like 1
- domestic cat(101094873) leprecan-like 1
- dog(478674) leprecan-like 1
- sheep(101108618) leprecan-like 1
- cow(511799) leprecan-like 1
- Horse(100059777) leprecan-like 1
- naked mole-rat(101709763) leprecan-like 1
- domestic guinea pig(100713593) leprecan-like 1
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