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)
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:
- anterior segment dysgenesis 7 Monarch
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)