PhenoModifier-Gene Detail

Gene "FAM13A"

Found 1 record

Gene information

Gene symbol:

FAM13A

See related:

Ensembl: ENSG00000138640, Gene ID: 10144

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered RhoA activity(1)

Detail：

Variant 1:

FAM13A:variant

Gene:

FAM13A

Genomic location:

dbSNP ID:

Target disease:

Cystic fibrosis(DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered RhoA activity

Evidence:

Gene activity study

Effect:

FAM13A is a modifier gene of CF lung phenotype regulating RhoA activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.

Reference:

PMID29239766

Title:

FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.

Species studied:

Human

Abstract:

Cystic fibrosis (CF) lung disease severity is highly variable and dependent on several factors including genetic modifiers. Family with sequence similarity 13 member A (FAM13A) has been previously associated with lung function in the general population as well as in several chronic lung diseases, such as chronic obstructive pulmonary disease (COPD), we examined whether FAM13A is a modifier gene of CF lung phenotype. We also studied how FAM13A may contribute to the physiopathological mechanisms associated with CF.