ACOT12

protein-coding

acyl-CoA thioesterase 12, the group of StAR related lipid transfer domain containing|Acyl-CoA thioesterases

Gene summary

Enables identical protein binding activity. Predicted to be involved in acetyl-CoA metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_130767.3

Inheritance

—

ClinVar variants

U:89B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr5:81,329,996-81,394,179

External References & Databases

Ensembl (ENSG00000172497)

Transcript & Mutation Effects

hg38 • Region Span ~64.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACOT12 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_130767.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			87 clinvar	6 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	89	7	0	96

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_130767.3	RefSeq	NP_570123.1	15	MANE Select
ENST00000307624.8	Ensembl	ENSP00000303246.3	15	MANE Select
ENST00000513751.1	Ensembl	ENSP00000421628.1	5	Standard
ENST00000513751.2	Ensembl	ENSP00000421628.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Pyruvate metabolism - Homo sapiens (human)
Pyruvate Dehydrogenase Complex Deficiency
Primary hyperoxaluria II, PH2
Pyruvate kinase deficiency
Leigh Syndrome

Biological Process

pyruvate metabolic process
acyl-CoA metabolic process
palmitic acid biosynthetic process

Molecular Function

fatty-acyl-CoA binding
acetyl-CoA hydrolase activity
lipid binding
palmitoyl-CoA hydrolase activity
long-chain fatty acyl-CoA binding

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000307624
Coding exons: 15
Length: 64175
Individuals with no LoFs: 125567
Homozygous LoFs: 0
Heterozygous LoFs: 181
Defined: 125748
p: 0.000720

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0471	308	310	0.992	0.0000164	3649
Missense (PolyPhen)		95	107.26	0.88567		1247
Synonymous	0.297	103	107	0.963	0.00000589	1046
Loss of Function	1.17	25	32.1	0.778	0.00000188	347

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.0014	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00081	0.00080	rare
South Asian	0.0014	0.0014	notable
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Hydrolyzes acetyl-CoA to acetate and CoA. {ECO:0000269|PubMed:16951743}.;

Recessive Scores

pRec: 0.179

Intolerance Scores

LoFtool: 0.794
RVIS EVS: 0.16
RVIS percentile EVS: 64.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.779

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium