protein phosphatase 2 regulatory subunit Bbeta

SCA12

PR55-BETA

PR52B

B55beta

spinocerebellar ataxia 12

protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform

PP2A subunit B isoform beta

Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform

PP2A subunit B isoform B55-beta

PP2A subunit B isoform PR55-beta

PP2A subunit B isoform R2-beta

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 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016].

Varaico: Literature-Extracted Genetic Variants

PPP2R2B

RefSeq Summary

Gene Aliases

HGNC Name

HGNC Previous Symbol