LDAH
protein-codinglipid droplet associated hydrolase
Gene summary
Predicted to enable sterol ester esterase activity. Involved in cholesterol homeostasis and intracellular triglyceride homeostasis. Acts upstream of with a positive effect on lipid droplet fusion. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]
- C2orf43
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~139.1 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 LDAH variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_021925.4. 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 | 1 | ||||
| missense | 45 | 3 | 1 | 49 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 49 | 3 | 1 | 53 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_068744.1 | 6 | MANE Select | |
| Ensembl | ENSP00000237822.3 | 6 | MANE Select | |
| RefSeq | NP_001269648.1 | 5 | Standard | |
| RefSeq | NP_001269649.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- lipid catabolic process
Molecular Function
- lipase activity
Cellular Component
- endoplasmic reticulum
- lipid droplet
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000237822
- Coding exons
- 6
- Length
- 139095
- Individuals with no LoFs
- 125666
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 79
- Defined
- 125746
- p
- 0.000318
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.602 | 151 | 173 | 0.871 | 0.00000829 | 2136 |
| Missense (PolyPhen) | 49 | 50.022 | 0.97956 | 638 | ||
| Synonymous | 0.807 | 54 | 62.1 | 0.870 | 0.00000315 | 604 |
| Loss of Function | 1.80 | 8 | 15.7 | 0.509 | 9.09e-7 | 186 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00067 | 0.00067 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0015 | 0.0015 | notable |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00011 | 0.000097 | rare |
| South Asian | 0.00042 | 0.00039 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages. {ECO:0000250|UniProtKB:Q8BVA5}.;
Intolerance Scores
- RVIS EVS
- 0.86
- RVIS percentile EVS
- 88.69
Essentials
- Essential (gene trap)
- N