ACAT2

Chr 6

acetyl-CoA acetyltransferase 2

The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
acetyl-CoA acetyltransferase-2 deficiency · UDNo Known Disease Relationshipno established gene-disease relationship
0
Active trials
57
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
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?
1.14LOEUF
pLI 0.000
Z-score 1.12
OE 0.71 (0.451.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.70Z-score
OE missense 0.87 (0.770.98)
190 obs / 219.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.451.14)
00.351.4
Missense OE?0.87 (0.770.98)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 12 / 17.0Missense obs/exp: 190 / 219.1Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACAT2 · 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 →