ACOT13

Chr 6

acyl-CoA thioesterase 13

Also known as: HT012, PNAS-27, THEM2

This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.94
LOEUF
DN
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?
1.94LOEUF
pLI 0.000
Z-score -1.08
OE 1.55 (0.811.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.10Z-score
OE missense 0.97 (0.811.17)
76 obs / 78.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.55 (0.811.94)
00.351.4
Missense OE?0.97 (0.811.17)
00.61.4
Synonymous OE?0.73
01.21.6
LoF obs/exp: 7 / 4.5Missense obs/exp: 76 / 78.4Syn Z: 1.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACOT13 · 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.

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