GPX4 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GPX4 (HGNC:4556) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- glutathione peroxidase 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PHGPx, MCSP
- %HI
- 34.09(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.39(Read more about gnomAD LOEUF score)
- Cytoband
- 19p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr19:1103993-1106778 NCBI Ensembl UCSC GRCh38/hg38: chr19:1103994-1106779 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002085.5 ENST00000354171.13 (Read more about MANE Select)
- Function
- Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (By similarity). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron- dependent accumulation of lipid reactive ox... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1394
ClinGen Curation ID:
CCID:007245
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:
- spondylometaphyseal dysplasia, Sedaghatian type Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)