PhenoModifier-Gene Detail

Gene "GPX1"

Found 1 record

Gene information

Gene symbol:

GPX1

See related:

Ensembl: ENSG00000233276, Gene ID: 2876

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	GGPS1 SBK1 VAT1L HAT1 MOK INPP5E RAB7A NRAS XRN1 LIAS RPL9 TKFC WRN RPSA CTDSPL2 DNAJC5B BTF3L4 TRMT1L CSNK2B PDHA2 NEK1 RPS4X UBE4B ATP10B PTRH2 MSH4 TTC37 ELOF1 ABHD2 RHOT2 TCF25 DNAJA3 IMPACT TALDO1 KATNA1 AP1G1 RANGRF CSNK2A2 RBM22 MGLL PPAN VPS26B DRG1 DLAT EXO1 show allhide
Negative interactions	ISCU PRDX1 MRE11 PHB2 RAD52 RTF1 XRCC3 PEX12 RAD54L RAD51 SC5D TTF2 MAF1 SMARCB1 KDM4A AZIN2 FOXJ3 UBC CCNA2 PSAT1 MON1B SLC25A21 MUS81 MOV10 CCNA2 HHATL YOD1 SFN SLC27A3 GABARAP KIF26A NAE1 COQ2 EDF1 RPS6 LDHD H2AFX PRDX6 MPC2 VAPB CCNA2 UNG PDXP FKBP15 SETD6 REXO2 SNX7 CMBL PPIAL4A DMC1 PCYT2 SRF ARFGAP1 AP3S2 SCYL2 SHMT2 PLAA GRTP1 BRSK1 MAEA WDR45B GTPBP3 LTA4H FKBP7 MTFMT RIT1 RPS6 PUS7L MAD2L1 MSH5-SAPCD1 RPL35 SLC20A1 PRDX1 CTSE TRMT2A MYO15B PQLC2L PM20D1 VPS35 SPRYD3 ONECUT1 MDH2 AP4S1 SLC32A1 PEX5L PRELID3A ERMP1 GCN1 ANPEP ATP7B RPL9 RPS9 H3F3C show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

Variant 1:

GPX1:c.593C>T(p.Pro200Leu)

Gene:

GPX1

Genomic location:

chr3:49394834

dbSNP ID:

rs1050450

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Altered onset time

Evidence:

From review article

Effect:

CAT,SOD2,GPX1 mutated alleles, indicating a cumulative effect on the time of PXE onset

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.