rs2383378
This variant is located in the AKAP6 gene.
▶Research that mentions this SNP (1)
▶Genetic variants associated with disordered eatingAssociationN=2,564Tracey D. Wade et al.(2013)· International Journal of Eating Disorders
This GWAS examined genetic variants associated with disordered eating in 2,564 female twins using four eating disorder phenotypes (anorexia nervosa spectrum, bulimia nervosa spectrum, purging via substances, and disordered eating behaviors). Six regions reached suggestive significance (p<5×10⁻⁷), implicating CLEC5A, LOC136242, TSHZ1, and SYTL5 for anorexia nervosa spectrum; NT5C1B for bulimia nervosa spectrum; and ATP8A2 for disordered eating behaviors. No variants reached genome-wide significance at p<10⁻⁸.
About AKAP6
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
View all AKAP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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