Peroxidasin

Alternative Names

PXDN
Peroxidasin, Drosophila, Homolog Of
PXN
P53-Responsive Gene 2
PRG2
Vascular Peroxidase 1
VPO1
Melanoma-Associated Gene 50
MG50
D2S448

Length

113,015 bases

No. of Exons

No. of isoforms

Protein Name

Peroxidasin homolog

Molecular Mass

165275 Da

Amino Acid Count

1479

Genomic Location

chr2:1,631,887-1,744,901

Gene Map Locus

2p25.3

Description

This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_012293.3:c.1018+1G>A	Saudi Arabia	NC_000002.12:g.1673642C>T		Pathogenic	Anterior Segment Dysgenesis 7	NG_034221.1:g.75906G>A; NM_012293.3:c.1018+1G>A; NP_036425.1:p.?
NM_012293.3:c.3609-1G>C	Egypt	NC_000002.12:g.1644753C>G		Likely Pathogenic	Anterior Segment Dysgenesis 7	NG_034221.1:g.104795G>C; NM_012293.3:c.3609-1G>C; NP_036425.1:p.?
NM_012293.3:c.4085_4086del	Egypt	NC_000002.12:g.1638966_1638967del	Pathogenic	Likely Pathogenic	Anterior Segment Dysgenesis 7	NG_034221.1:g.110581_110582del; NM_012293.3:c.4085_4086del; NP_036425.1:p.Gln1362ArgfsTer22	967959245	932291

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PXDN

Contributors

Pratibha Nair: 04.10.2023
Sayeeda Hana: 09.03.2023

Edit History

Pratibha Nair: 04.10.2023
Sayeeda Hana: 09.03.2023
Pratibha Nair: 10.12.2018

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