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.