ACSL5 Chromosome 10

Acyl-CoA synthetase long chain family member 5
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Acyl-CoA synthetase family
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000197142
Associated Conditions (1)
Diarrhea 13
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1336100636 Health Risk Pathogenic Diarrhea 13, Diarrhea 13
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