PhenoModifier-Gene Detail

Gene "CAT"

Found 1 record

Gene information

Gene symbol:

CAT

See related:

Ensembl: ENSG00000121691, Gene ID: 847

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	PTRH1 PRKAG2 RPS4X PGD MAN1A2 PEX14 OSGEPL1 PELO GATA2 CYB5B IDH3A EMC3 DPYD ATP10B SLC3A1 HCFC2 TBC1D20 SLC25A19 ACP1 MPC2 GRK7 INPP5E RPL8 NFXL1 DRG1 RPEL1 NF1 TST CNIH3 PLAA RPL37A GART PQLC2L MEMO1 SHMT2 DPH1 show allhide
Negative interactions	COQ7 COQ2 RHOT2 COX10 AVL9 BCS1L ATP1A1 USP35 HIST2H4B RPL26 COX6B2 PAN3 PSD3 PPAT RPS27 ASF1A DYNLL1 EMC4 DPP6 USP35 PRDX6 ALDH6A1 PIAS1 TUSC3 SDHB RPL7 SLC11A2 TARBP1 GPCPD1 RPS28 ELOVL1 ATM DOHH TMEM87A AP3S2 TRMT11 PRKG2 SDHAF2 SRPK2 CAMKK2 EIF5A2 ADHFE1 BUD31 TCP11L2 IPO8 MSRA FBP1 OTUD6A OLA1 BMP2K ABCB9 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

Variant 1:

CAT:c.262C>T

Gene:

CAT

Genomic location:

dbSNP ID:

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.