Protein Information
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12.
Synonyms
2900026H06Rik; 6330404L05Rik; B55BETA; BRbeta B-regulatory subunit of protein phosphatase 2A; E130009M08Rik; PP2A PP2ABBETA; PP2A subunit B isoform B55-beta; PP2A subunit B isoform beta; PP2A subunit B isoform BRB; PP2A subunit B isoform PR55-beta; PP2A subunit B isoform R2-beta; PP2A, subunit B, B55-beta isoform; PP2A, subunit B, B-beta isoform; PP2A, subunit B, BRB isoform; PP2A, subunit B, PR55-beta isoform; PP2A, subunit B, R2-beta isoform; PP2AB55BETA; PP2ABBETA; PP2APR55B; PP2A-PR55B; PP2APR55BETA; PPP2R2B; Pppr2b2; PR2A PR2ABBETA; PR2AB55BETA; PR2ABBETA; PR2APR55BETA; PR52B; PR55BETA; PR55-BETA; protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform; protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform; protein phosphatase 2 regulatory subunit B, beta; protein phosphatase 2 regulatory subunit Bbeta; protein phosphatase 2, regulatory subunit B, beta; SCA12; serine/threonine protein phosphatase 2A, 55 kDa regulatory subunit B, beta isoform; serine/threonine protein phosphatase 2A, neuronal isoform; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
