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.
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Protein Aliases: calcineurin B subunit; calcineurin B, type II (19kDa); Calcineurin B-like protein; Calcineurin BII; Calcineurin subunit B type 2; CBLP; CNBII; PP2B beta 2; PPP3R1-like; protein phospatase 3, regulatory subunit B, alpha isoform (calcineurin B, type II); Protein phosphatase 2B regulatory subunit 2; protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II); protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, beta isoform (calcineurin B, type II); protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform; Protein phosphatase 3 regulatory subunit B beta isoform; protein phosphatase 3, regulatory subunit B, beta; ty
Gene Aliases: CaNB2; CBLP; CnB2; PPP3R2; PPP3RL