PXDN
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PXDN (HGNC:14966) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
peroxidasin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN
%HI
61.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.68(Read more about gnomAD LOEUF score)
Cytoband
2p25.3
Genomic Coordinates
GRCh37/hg19: chr2:1635659-1748287 NCBI Ensembl UCSC
GRCh38/hg38: chr2:1631887-1744901 NCBI Ensembl UCSC
MANE Select Transcript
NM_012293.3 ENST00000252804.9 (Read more about MANE Select)
Function
Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncross-linked collagen IV/COL4A1 NC1 hexamer (PubMed:18929642, PubMed:22842973, PubMed:27697841, PubMed:28154175, PubMed:19590037, PubMed:25708780, PubMed:25713063, PubMed:34679700). In turns, directly contributes to the collagen IV network-dependent fibronectin/FN... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17336
ClinGen Curation ID:
CCID:007734
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_000002.11) (NC_000002.12)