ACOXL

protein-coding

acyl-CoA oxidase like

Gene summary

Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001142807.4

Inheritance

—

ClinVar variants

U:97B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr2:110,732,539-111,118,548

External References & Databases

Ensembl (ENSG00000153093)

Transcript & Mutation Effects

hg38 • Region Span ~386.0 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 ACOXL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001142807.4. 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			2 clinvar			2
missense			91 clinvar	6 clinvar		97
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	97	6	0	103

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 99 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001142807.4	RefSeq	NP_001136279.1	17	MANE Select
ENST00000439055.6	Ensembl	ENSP00000407761.1	17	MANE Select
NM_001365487.2	RefSeq	NP_001352416.1	10	Standard
NM_001371254.1	RefSeq	NP_001358183.1	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Beta-oxidation of pristanoyl-CoA
Peroxisomal lipid metabolism
Metabolism
Fatty acid metabolism

Biological Process

biological_process
fatty acid beta-oxidation using acyl-CoA oxidase
lipid homeostasis

Molecular Function

molecular_function
acyl-CoA oxidase activity
fatty acid binding
pristanoyl-CoA oxidase activity
flavin adenine dinucleotide binding

Cellular Component

cellular_component
peroxisome
peroxisomal matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000439055
Coding exons: 17
Length: 385650
Individuals with no LoFs: 124140
Homozygous LoFs: 132
Heterozygous LoFs: 1476
Defined: 125748
p: 0.00641

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	286	339	0.844	0.0000184	3772
Missense (PolyPhen)		70	93.333	0.75		1139
Synonymous	0.934	122	136	0.898	0.00000772	1139
Loss of Function	1.11	26	32.9	0.790	0.00000157	382

Population LoF Frequency

Population	CAF	p-value	Status
African	0.078	0.066	notable
Latino/Admixed American	0.0052	0.0051	notable
Ashkenazi Jewish	0.010	0.010	notable
East Asian	0.00077	0.00076	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.0020	0.0019	notable
South Asian	0.00069	0.00065	rare
Other	0.0052	0.0052	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0796

Intolerance Scores

LoFtool: 0.338
RVIS EVS: 1.87
RVIS percentile EVS: 97.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.117

Gene Damage Prediction

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