GRHPR |
- 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:
- primary hyperoxaluria type 2 Monarch
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)