ACSL5

Chr 10

acyl-CoA synthetase long chain family member 5

Also known as: ACS2, ACS5, DIAR13, FACL5

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiarrhea 13
0
Active trials
66
Pubs (1 yr)
P/LP submissions
P/LP missense
0.73
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 2.96
OE 0.51 (0.360.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.72Z-score
OE missense 0.90 (0.830.98)
369 obs / 409.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.360.73)
00.351.4
Missense OE?0.90 (0.830.98)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 21 / 41.6Missense obs/exp: 369 / 409.9Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACSL5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →