ACSM6
protein-codingacyl-CoA synthetase medium chain family member 6, the group of Acyl-CoA synthetase family
Gene summary
Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
- C10orf129
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~34.7 kbGenCC 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 ACSM6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_207321.3. 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 | 55 | 2 | 57 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 56 | 2 | 0 | 58 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_997204.2 | 10 | MANE Select | |
| Ensembl | ENSP00000377573.3 | 10 | MANE Select | |
| Ensembl | ENSP00000328491.3 | 3 | Standard | |
| Ensembl | ENSP00000384922.2 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Butanoate metabolism - Homo sapiens (human)
- Metabolism of lipids
- Beta oxidation of butanoyl-CoA to acetyl-CoA
- mitochondrial fatty acid beta-oxidation of saturated fatty acids
- Mitochondrial Fatty Acid Beta-Oxidation
Biological Process
- fatty acid biosynthetic process
- acyl-CoA metabolic process
Molecular Function
- acyl-CoA ligase activity
- fatty-acyl-CoA synthase activity
- ATP binding
- GTP binding
- fatty acid ligase activity
Cellular Component
- mitochondrial matrix
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000341686
- Coding exons
- 10
- Length
- 34729
- Individuals with no LoFs
- 125624
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 124
- Defined
- 125748
- p
- 0.000493
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.957 | 212 | 255 | 0.831 | 0.0000129 | 3130 |
| Missense (PolyPhen) | 46 | 65.493 | 0.70236 | 797 | ||
| Synonymous | 1.99 | 68 | 92.3 | 0.737 | 0.00000471 | 926 |
| Loss of Function | 1.54 | 14 | 21.8 | 0.643 | 0.00000100 | 276 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00055 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0047 | 0.0047 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00016 | 0.00016 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0.00081 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.68
- RVIS percentile EVS
- 85.04