rs11195952
This variant is located in the ACSL5 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet count
VLDL particle size
cholesteryl esters to total lipids in small LDL percentage
free cholesterol in chylomicrons and extremely large VLDL measurement
concentration of chylomicrons and extremely large VLDL particles measurement
omega-6 polyunsaturated fatty acid measurement
cholesterol in chylomicrons and extremely large VLDL measurement
phospholipids in chylomicrons and extremely large VLDL measurement
total lipids in small LDL
free cholesterol to total lipids in small LDL percentage
About ACSL5
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all ACSL5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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