Gene Name: EFR3 homolog A (S. cerevisiae) Aliases: KIAA0143 Chromosome No: 8 Chromosome Band: 8q24.22 Genetic Category: Rare Single Gene variant-Rare Single Gene variant/genetic association
Rare nonsynonymous variants in the EFR3A gene were found to be more common among cases (16/2196; 0.73%) than matched controls (12/3389; 0.35%), and were statistically more common at conserved nucleotides based on an experiment-wide significance threshold (P=0.0077, permutation test); variants likely to be deleterious were also statistically more common in cases than controls (P=0.017, Fisher exact test) (Gupta et al., 2014).
Molecular Function
This gene encodes a membrane protein that is a component of a protein complex required for PtdIns4P synthesis. Studies with orthologous gene in mouse show that it is differentially expressed in the auditory brainstem neurons of mice with hearing deficit, compared to mice with normal hearing ability, suggesting a role for this gene in hearing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
