OLAH
protein-codingoleoyl-ACP hydrolase
Gene summary
Enables fatty acyl-[ACP] hydrolase activity. Involved in medium-chain fatty acid biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
- THEDC1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~41.6 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 OLAH variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001039702.3. 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 | 35 | 5 | 40 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 5 | 0 | 40 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001034791.1 | 7 | MANE Select | |
| Ensembl | ENSP00000367473.4 | 7 | MANE Select | |
| RefSeq | NP_060794.1 | 8 | Standard | |
| Ensembl | ENSP00000367462.3 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Fatty acid biosynthesis - Homo sapiens (human)
- Metabolism of lipids
- Fatty acyl-CoA biosynthesis
- Metabolism
- Fatty acid metabolism
Biological Process
- lipid biosynthetic process
- medium-chain fatty acid biosynthetic process
Molecular Function
- oleoyl-[acyl-carrier-protein] hydrolase activity
- myristoyl-[acyl-carrier-protein] hydrolase activity
- palmitoyl-[acyl-carrier-protein] hydrolase activity
- dodecanoyl-[acyl-carrier-protein] hydrolase activity
Cellular Component
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000378217
- Coding exons
- 8
- Length
- 41626
- Individuals with no LoFs
- 125686
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 47
- Defined
- 125733
- p
- 0.000187
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.975 | 193 | 158 | 1.22 | 0.00000786 | 2092 |
| Missense (PolyPhen) | 73 | 51.009 | 1.4311 | 734 | ||
| Synonymous | 0.130 | 53 | 54.2 | 0.978 | 0.00000278 | 585 |
| Loss of Function | -0.160 | 14 | 13.4 | 1.05 | 6.58e-7 | 177 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00012 | rare |
| Latino/Admixed American | 0.00014 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0015 | 0.0015 | notable |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.000073 | 0.000070 | rare |
| South Asian | 0.000034 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16). {ECO:0000269|PubMed:26663084}.;
Recessive Scores
- pRec
- 0.0690
Intolerance Scores
- LoFtool
- 0.295
- RVIS EVS
- 0.46
- RVIS percentile EVS
- 78.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0487
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |