PSPH
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PSPH (HGNC:9577) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphoserine phosphatase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PSP
Alias symbols
No aliases found
%HI
44.89(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
7p11.2
Genomic Coordinates
GRCh37/hg19: chr7:56078757-56119137 NCBI Ensembl UCSC
GRCh38/hg38: chr7:56011064-56051444 NCBI Ensembl UCSC
MANE Select Transcript
NM_004577.4 ENST00000275605.8 (Read more about MANE Select)
Function
Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L- serine to L-serine (PubMed:12213811, PubMed:15291819, PubMed:9222972, PubMed:14673469, PubMed:25080166). L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469). May also act on O-phospho-D-serine (Probable). {ECO:0000269|PubMed:... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24593
ClinGen Curation ID:
CCID:007724
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)