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

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

rs10182825 in PPP1CB;SPDYA gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs10182825 in PPP1CB;SPDYA gene and AIDS, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs10182825 in PPP1CB;SPDYA gene and HIV-1, RESISTANCE TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs10182825 in PPP1CB;SPDYA gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs886037953 in PPP1CB;SPDYA gene and NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 PMID 28211982 2017 The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

PMID 27681385 2016 De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

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 27264673 2016 A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

rs10182825 in PPP1CB;SPDYA gene and Viral Load result PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.