• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GRHPR (HGNC:4570) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glyoxylate and hydroxypyruvate reductase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GLXR, GLYD
Alias symbols
PH2
%HI
51.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.17(Read more about gnomAD LOEUF score)
Cytoband
9p13.2
Genomic Coordinates
GRCh37/hg19: chr9:37422693-37436987 NCBI Ensembl UCSC
GRCh38/hg38: chr9:37422435-37439494 NCBI Ensembl UCSC
MANE Select Transcript
NM_012203.2 ENST00000318158.11 (Read more about MANE Select)
Function
Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidizes D- glycerate to hydroxypyruvate. {ECO:0000269|PubMed:10484776, ECO:0000269|PubMed:10524214}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15655
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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_000009.11) (NC_000009.12)