ACBD7

protein-coding

acyl-CoA binding domain containing 7

Gene summary

Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within several processes, including energy homeostasis; leptin-mediated signaling pathway; and response to food. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001039844.3

Inheritance

—

ClinVar variants

U:16B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr10:15,075,475-15,088,776

External References & Databases

Ensembl (ENSG00000176244)

Transcript & Mutation Effects

hg38 • Region Span ~13.3 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 ACBD7 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 16

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039844.3. 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						0
missense			15 clinvar	2 clinvar		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	16	2	0	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039844.3	RefSeq	NP_001034933.1	4	MANE Select
ENST00000356189.6	Ensembl	ENSP00000367453.4	4	MANE Select
ENST00001097593.1	Ensembl	ENSP00000767399.1	3	Standard
ENST00001129127.1	Ensembl	ENSP00000798932.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Mitochondrial Fatty Acid Beta-Oxidation
Metabolism
Fatty acid metabolism

Molecular Function

fatty-acyl-CoA binding
lipid binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000356189
Coding exons: 4
Length: 11254
Individuals with no LoFs: 125468
Homozygous LoFs: 1
Heterozygous LoFs: 260
Defined: 125729
p: 0.00104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0321	47	47.6	0.987	0.00000252	565
Missense (PolyPhen)		19	14.326	1.3263		180
Synonymous	-0.552	22	18.9	1.16	0.00000120	155
Loss of Function	1.31	2	5.25	0.381	2.21e-7	65

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.0080	0.0080	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds medium- and long-chain acyl-CoA esters.;

Recessive Scores

pRec: 0.0917

Intolerance Scores

LoFtool: 0.417
RVIS EVS: 0.15
RVIS percentile EVS: 64.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.170

Gene Damage Prediction

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