rs145544909
This variant is located in the PSPH gene.
▶ClinVar annotation
Deficiency of phosphoserine phosphatase; not provided; Familial cancer of breast; Sarcoma; Ovarian serous cystadenocarcinoma; Cholangiocarcinoma; Acute myeloid leukemia; Malignant tumor of esophagus; Cervical cancer
View on ClinVar →About PSPH
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]
View all PSPH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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