DISEASES

Disease-gene associations mined from literature

Literature associating PPP1CB and Noonan syndrome-like disorder with loose anagen hair

PPP1CB [ENSP00000378769]

Serine/threonine-protein phosphatase PP1-beta catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective . ; Belongs to the PPP phosphatase family. PP-1 subfamily.

Synonyms:  PPP1CB,  PPP1CBp,  hPPP1CB,  C9J9S3,  C9JP48 ...

Linkouts:  STRING  Pharos  UniProt