Gene: PSPH

Alternate names for this Gene: PSP|PSPHD

Gene Summary: The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome.

Gene is located in Chromosome: 7

Location in Chromosome : 7p11.2

Description of this Gene: phosphoserine phosphatase

Type of Gene: protein-coding

rs4275190 in PSPH gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35210477 in PSPH gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

PMID 26068415 2015 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

rs104894035 in PSPH gene and Deficiency of phosphoserine phosphatase PMID 14673469 2004 Mutations responsible for 3-phosphoserine phosphatase deficiency.

rs112702219 in PSPH gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs4947534 in PSPH gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

PMID 31070104 2019 Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

rs4948102 in PSPH gene and Homocysteine measurement PMID 24651765 2014 Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.

rs35210477 in PSPH gene and Serine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.