PSPH Chromosome 7
Phosphoserine phosphatase
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HAD Asp-based non-protein phosphatases
Locus Type
gene with protein product
Location
7p11.2
Ensembl
ENSG00000146733
Associated Conditions (12)
Clear cell carcinoma of kidney
Glioma susceptibility 1
Gastric cancer
Melanoma
Malignant tumor of esophagus
Familial cancer of breast
Neurometabolic disorder due to serine deficiency
Papillary renal cell carcinoma type 1
Malignant tumor of urinary bladder
Deficiency of phosphoserine phosphatase
PSPH-related disorder
Inborn genetic diseases
Key Variants
RS139106189
Conflicting classifications of pathogenicity
Clear cell carcinoma of kidney, Glioma susceptibility 1, Gastric cancer
Health Risk
RS147077540
Conflicting classifications of pathogenicity
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
RS147304638
Conflicting classifications of pathogenicity
Deficiency of phosphoserine phosphatase, PSPH-related disorder, Deficiency of phosphoserine phosphatase
Health Risk
RS73343752
Conflicting classifications of pathogenicity
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
RS779259191
Conflicting classifications of pathogenicity
Deficiency of phosphoserine phosphatase, Inborn genetic diseases, Deficiency of phosphoserine phosphatase
Health Risk
RS1264747554
Likely pathogenic
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
RS1788688718
Likely pathogenic
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
RS104894036
Pathogenic
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
RS786204793
Pathogenic
Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139106189 | Health Risk | Conflicting classifications of pathogenicity | Clear cell carcinoma of kidney, Glioma susceptibility 1, Gastric cancer |
| RS147077540 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |
| RS147304638 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of phosphoserine phosphatase, PSPH-related disorder, Deficiency of phosphoserine phosphatase |
| RS73343752 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |
| RS779259191 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of phosphoserine phosphatase, Inborn genetic diseases, Deficiency of phosphoserine phosphatase |
| RS1264747554 | Health Risk | Likely pathogenic | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |
| RS1788688718 | Health Risk | Likely pathogenic | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |
| RS104894036 | Health Risk | Pathogenic | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |
| RS786204793 | Health Risk | Pathogenic | Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase |