PhenoModifier-Gene Detail

Gene "UCHL1"

Found 1 record

Gene information

Gene symbol:

UCHL1

See related:

Ensembl: ENSG00000154277, Gene ID: 7345

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	PEX5L PEX10 PEX13 OSGEPL1 SIN3A VAC14 MYO15B
Negative interactions	LSM7 FASN DBT ZFP42 GSK3B PTPA WDR76 STAM2

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

Variant 1:

UCHL1:c.53C>A(p.Ser18Tyr)

Gene:

UCHL1

Genomic location:

chr4:41259633

dbSNP ID:

rs5030732

Target disease:

Huntington's Disease(DOID_12858)

Effect type:

Expressivity

Modifier effect:

Altered onset time

Evidence:

Gene activity study

Effect:

The UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD.

Reference:

PMID12123845

Title:

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

Species studied:

Human

Abstract:

Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about 70% of the variance in age-at-onset can be explained by the size of the repeat expansion. Among potential candidates as modifier genes, we investigated the role of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene. We examined the association of HD with the I93M mutation and S18Y polymorphism in 138 HD patients and 136 control subjects, but we did not identify the I93M mutation. The S18Y polymorphism was present in 17% of HD patients. Of the variance in the age-at-onset that was not accounted for by the CAG repeat, 13% could be attributed to S18Y polymorphism. We sequenced the entire coding region of the UCH-L1 gene in seven HD patients with unexplained older or younger onset age. The S18Y polymorphism was found in three out of the four patients presenting with a later age-at-onset. We conclude that the UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD.