Gene: SPDYA
Alternate names for this Gene: RINGO3|RINGOA|SPDY1|SPY1
Gene Summary:
Gene is located in Chromosome: 2
Location in Chromosome : 2p23.2
Description of this Gene: speedy/RINGO cell cycle regulator family member A
Type of Gene: protein-coding
Gene: PPP1CB
Alternate names for this Gene: HEL-S-80p|MP|NSLH2|PP-1B|PP1B|PP1beta|PP1c|PPP1CD|PPP1beta
Gene Summary: The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed.
Gene is located in Chromosome: 2
Location in Chromosome : 2p23.2
Description of this Gene: protein phosphatase 1 catalytic subunit beta
Type of Gene: protein-coding
rs886037955 in
SPDYA;PPP1CB gene and
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
PMID 27264673 2016 A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
PMID 28211982 2017 The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
PMID 27868344 2017 Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
PMID 27681385 2016 De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.