ACBD6
protein-codingacyl-CoA binding domain containing 6, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes
Gene summary
Enables fatty-acyl-CoA binding activity. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~233.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0001071
Submitter: Ambry Genetics
Inheritance Pattern: AR
Disease ID:MONDO:0968976
Submitter: G2P
Inheritance Pattern: AR
Disease ID:MONDO:0968976
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Craniofacial; Neurologic
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ACBD6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_032360.4. 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 | 1 | 6 | 1 | 8 | ||
| missense | 35 | 2 | 37 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 5 | 5 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 5 | 6 | |||
| Total | 6 | 1 | 41 | 8 | 1 | 57 |
Highest pathogenic variant AF is 0.000022306187
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_115736.1 | 8 | MANE Select | |
| Ensembl | ENSP00000356567.3 | 8 | MANE Select | |
| Ensembl | ENSP00000495710.1 | 8 | Standard | |
| Ensembl | ENSP00000494507.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of lipids
- Mitochondrial Fatty Acid Beta-Oxidation
- TCR
- Metabolism
- Fatty acid metabolism
Biological Process
- acyl-CoA metabolic process
Molecular Function
- fatty-acyl-CoA binding
- lipid binding
Cellular Component
- cytosol
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0- CoA. Does not bind fatty acids. {ECO:0000269|PubMed:18268358}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- LoFtool
- 0.522
- RVIS EVS
- -0.43
- RVIS percentile EVS
- 25.15
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |