LIPN
Lipase Family Member N, a Key Enzyme in Skin Barrier Function and Lipid Metabolism
Gene Information Card
| Symbol | LIPN |
|---|---|
| Full Name | Lipase Family Member N |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 643418 ncbi.nlm.nih.gov/gene/643418 |
| Ensembl ID | ENSG00000197958 |
| UniProt ID | Q5VXJ0 |
| OMIM ID | 613924 |
| HGNC ID | 23452 |
| Aliases | bA425D10.1, LIPL3 |
Description
LIPN encodes a member of the lipase family, specifically expressed in the epidermis. The enzyme is involved in the hydrolysis of triglycerides and other lipids, playing a critical role in the formation of the skin barrier. Mutations in LIPN are associated with autosomal recessive congenital ichthyosis (ARCI), a disorder characterized by dry, scaly skin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis (ARCI) | Loss-of-function mutations in LIPN impair lipid processing in the stratum corneum, leading to defective skin barrier and scaling. | ClinVar, OMIM #613924 |
| Ichthyosis, lamellar, 6 (LI6) | Same mechanism as ARCI; LIPN mutations cause a subtype of lamellar ichthyosis. | OMIM #613924 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 3.2 | Low |
| Adipose tissue | 1.1 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.0 | Primary skin cells |
| HaCaT | 8.5 | Immortalized keratinocyte line |
| Fibroblasts | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535C>T (p.Arg179*) | Nonsense | Rare | Loss of function; associated with ARCI |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Likely damaging; reduced lipase activity |
| c.1018C>T (p.Arg340Cys) | Missense | Rare | Uncertain significance; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg179*) lead to premature stop codons and truncated, non-functional protein, causing ARCI.
Gain of Function (GOF)
No gain-of-function mutations reported for LIPN.
Dominant Negative (DN)
No dominant-negative mutations reported; ARCI is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity (GO:0004806) | • lipid catabolic process (GO:0016042) |
| • lipid metabolic process (GO:0006629) | • keratinization (GO:0031424) |
| • extracellular region (GO:0005576) |
Pathways
• Triglyceride metabolism (Reactome: R-HSA-8979227)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
LIPN is a 398-amino acid protein belonging to the lipase family. It contains a conserved catalytic triad (Ser-Asp-His) typical of serine hydrolases. The enzyme is secreted into the extracellular space of the epidermis, where it processes lipids to maintain skin barrier integrity. Defects in LIPN lead to accumulation of triglycerides in the stratum corneum, resulting in ichthyosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPN Knockout HEK293 Cell Line | EDJ-KQ14086 | Human | 643418 | Details Get a Quote |
| LIPN Knockout HeLa Cell Line | EDJ-KQ60546 | Human | 643418 | Details Get a Quote |
| LIPN Knockout A-549 Cell Line | EDJ-KQ69017 | Human | 643418 | Details Get a Quote |
| LIPN Knockout HCT 116 Cell Line | EDJ-KQ77374 | Human | 643418 | Details Get a Quote |
