LDAH (Lipid Droplet Associated Hydrolase)
Gene encoding a lipid droplet-associated hydrolase involved in lipid metabolism
Gene Information Card
| Symbol | LDAH |
|---|---|
| Full Name | Lipid Droplet Associated Hydrolase |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 60561 ncbi.nlm.nih.gov/gene/60561 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9NWH7 |
| OMIM ID | 617707 |
| HGNC ID | 26076 |
| Aliases | C2orf49, FLJ20489 |
Description
LDAH encodes a lipid droplet-associated hydrolase that localizes to lipid droplets and exhibits triacylglycerol lipase activity. The protein is involved in lipid metabolism, particularly in the hydrolysis of stored triglycerides, and may play a role in cellular lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Potential role in lipid droplet metabolism; altered expression may affect adipocyte lipid storage | PMID: 25644396 |
| Non-alcoholic fatty liver disease (NAFLD) | LDAH expression changes in hepatic steatosis; involved in triglyceride hydrolysis | PMID: 29127255 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Kidney | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| 3T3-L1 adipocytes | 10.2 | Differentiated adipocytes |
| HeLa | 2.1 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.101G>A (p.Arg34Gln) | Missense | <0.01% | Predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations identified.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity (GO:0004806) | • membrane (GO:0016020) |
| • lipid droplet (GO:0005811) | • lipid catabolic process (GO:0016042) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Triglyceride metabolism (Reactome: R-HSA-8979227)
• Lipid droplet metabolism (Reactome: R-HSA-8963896)
Protein Summary
LDAH is a 313-amino acid protein with a predicted molecular weight of 35 kDa. It contains a conserved alpha/beta hydrolase fold and localizes to lipid droplets via a hydrophobic domain. The enzyme catalyzes the hydrolysis of triacylglycerols to diacylglycerols and free fatty acids, contributing to lipid droplet turnover. Expression is highest in liver and adipose tissue, consistent with a role in energy storage and mobilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDAH Knockout HEK293 Cell Line | EDJ-KQ14048 | Human | 60526 | Details Get a Quote |
| LDAH Knockout A-549 Cell Line | EDJ-KQ43954 | Human | 60526 | Details Get a Quote |
| LDAH Knockout HCT 116 Cell Line | EDJ-KQ43955 | Human | 60526 | Details Get a Quote |
| LDAH Knockout HeLa Cell Line | EDJ-KQ43956 | Human | 60526 | Details Get a Quote |
