ACSL5
acyl-CoA synthetase long chain family member 5
Summary
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]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2419621 | 10:114,135,013 | C/T | regulatory region variant | — |
| rs761080870 | 10:114,136,075 | C/T | — | likely benign |
| rs2493153714 | 10:114,136,077 | C/G | — | uncertain significance |
| rs754412834 | 10:114,136,103 | C/A | — | uncertain significance |
| rs1363751167 | 10:114,136,127 | G/C | — | uncertain significance |
| rs200599528 | 10:114,136,132 | C/T | — | likely benign |
| rs79671623 | 10:114,141,103 | G/A | intron variant | — |
| rs762030671 | 10:114,154,742 | C/T | — | uncertain significance |
| rs79474342 | 10:114,154,823 | C/A | — | benign |
| rs1329020415 | 10:114,154,837 | A/G | — | uncertain significance |
| rs11195945 | 10:114,155,586 | C/G | — | — |
| rs746731885 | 10:114,158,705 | G/C | — | uncertain significance |
| rs61872355 | 10:114,160,713 | G/C | intron variant | — |
| rs12221085 | 10:114,163,320 | A/G | downstream gene variant | — |
| rs531455951 | 10:114,164,298 | C/A | — | uncertain significance |
| rs745368687 | 10:114,164,499 | T/G | — | uncertain significance |
| rs2419626 | 10:114,167,216 | G/A | downstream gene variant | — |
| rs201347320 | 10:114,168,170 | C/T | — | benign |
| rs140011392 | 10:114,168,208 | C/T | — | uncertain significance |
| rs1261057138 | 10:114,168,213 | T/A | — | uncertain significance |
| rs754570495 | 10:114,168,253 | A/C | — | uncertain significance |
| rs3736947 | 10:114,169,190 | C/A | coding sequence variant | — |
| rs200247887 | 10:114,169,273 | G/A | — | uncertain significance |
| rs1844129475 | 10:114,169,283 | T/C | — | uncertain significance |
| rs751230177 | 10:114,169,355 | T/A | — | uncertain significance |
| rs375242295 | 10:114,169,440 | T/A | — | likely benign |
| rs770704506 | 10:114,170,350 | C/G | — | uncertain significance |
| rs1382303613 | 10:114,171,673 | C/T | — | uncertain significance |
| rs1564740217 | 10:114,171,678 | C/G | — | uncertain significance |
| rs11195952 | 10:114,173,554 | G/T | — | — |
| rs4501923 | 10:114,174,431 | A/C | intron variant | — |
| rs11812261 | 10:114,176,693 | G/A | — | benign |
| rs148180719 | 10:114,176,715 | G/A | — | uncertain significance |
| rs2493276391 | 10:114,177,620 | G/T | — | uncertain significance |
| rs372403695 | 10:114,177,631 | A/T | — | uncertain significance |
| rs1336100636 | 10:114,181,394 | C/A | — | pathogenic |
| rs764245528 | 10:114,181,417 | A/G | — | uncertain significance |
| rs2493288926 | 10:114,181,741 | A/G | — | uncertain significance |
| rs1281871870 | 10:114,181,768 | A/G | — | uncertain significance |
| rs12254915 | 10:114,181,773 | A/G | — | benign |
| rs2493311342 | 10:114,185,115 | T/C | — | uncertain significance |
| rs144236262 | 10:114,185,175 | T/C | — | uncertain significance |
| rs752072612 | 10:114,185,231 | A/C | — | uncertain significance |
| rs111401860 | 10:114,185,237 | C/T | — | uncertain significance |
| rs1844707114 | 10:114,186,062 | C/T | — | uncertain significance |
| rs781778057 | 10:114,186,092 | C/T | — | uncertain significance |
| rs1485352951 | 10:114,187,036 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.