HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LIPN
lipase family member N
Chromosome 10 · 10q23.31
NCBI Gene: 643418Ensembl: ENSG00000204020.6HGNC: HGNC:23452UniProt: Q5VXI9
4PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid metabolic processlipase activitylipoprotein lipase activitycornificationlamellar ichthyosisautosomal recessive congenital ichthyosisjoint diseasemetabolic syndrome
✦AI Summary

LIPN (lipase family member N) is a specialized enzyme that plays a critical role in keratinocyte differentiation and skin barrier formation. The protein contains two distinct domains: an alpha/beta hydrolase fold and an abhydrolase-associated lipase region, with the consensus sequence of an active lipase 1. LIPN functions in the terminal stages of keratinocyte differentiation, specifically in lipid metabolism of the most differentiated epidermal layers 1. The enzyme localizes within putative lamellar bodies alongside other lipoxygenases, suggesting involvement in the formation of the corneocyte lipid envelope (CLE), a critical structure for skin barrier function 2. Mutations in LIPN cause autosomal recessive congenital ichthyosis type 8 (ARCI8), a rare skin cornification disorder characterized by generalized scaling and varying degrees of erythema 13. In clinical populations, LIPN mutations account for approximately 2% of ARCI cases, making it one of the less common genetic causes within this heterogeneous disorder 34. The identification of LIPN mutations is facilitated by mRNA analysis using hair follicle samples, which provides a minimally invasive diagnostic approach for genetic counseling and patient management 1.

Sources cited
1
LIPN contains alpha/beta hydrolase fold and abhydrolase-associated lipase region, functions in keratinocyte differentiation, and causes ARCI when mutated
PMID: 25982146
2
LIPN co-localizes within putative lamellar bodies with lipoxygenases, suggesting involvement in corneocyte lipid envelope formation
PMID: 30471252
3
LIPN mutations account for 2% of ARCI cases in Middle Eastern populations
PMID: 33786896
4
Clinical data on LIPN mutation frequency in English cohort of ARCI patients
PMID: 31168818
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
lamellar ichthyosisOpen Targets
0.50Moderate
autosomal recessive congenital ichthyosisOpen Targets
0.37Weak
joint diseaseOpen Targets
0.32Weak
metabolic syndromeOpen Targets
0.07Suggestive
MODYOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.05Suggestive
hyperproinsulinemiaOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
phosphoenolpyruvate carboxykinase deficiency, mitochondrialOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
androgenetic alopeciaOpen Targets
0.03Suggestive
nephrolithiasisOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
myelodysplastic syndromeOpen Targets
0.02Suggestive
Ichthyosis, congenital, autosomal recessive 8UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LIPMShared pathway100%LIPKShared pathway100%PCSK5Protein interaction89%SP6Protein interaction88%ABCA12Protein interaction87%CYP4F22Protein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
41%
Liver
2%
Brain
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
LIPNLIPMLIPKPCSK5SP6ABCA12CYP4F22
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VXI9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.44–1.07]
RankingsWhere LIPN stands among ~20K protein-coding genes
  • #18,605of 20,598
    Most Researched4
  • #10,853of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedLIPN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of Tregs-Related Genes with Molecular Patterns in Patients with Systemic Sclerosis Related to ILD.
PMID: 36979470
Biomolecules · 2023
1.00
2
Characterization of LipN (Rv2970c) of Mycobacterium Tuberculosis H37Rv and its Probable Role in Xenobiotic Degradation.
PMID: 26212120
J Cell Biochem · 2016
0.90
3
Lipolysis and gestational diabetes mellitus onset: a case-cohort genome-wide association study in Chinese.
PMID: 36698149
J Transl Med · 2023
0.80
4
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
PMID: 25982146
J Dermatol Sci · 2015
0.70
5
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
PMID: 33786896
Exp Dermatol · 2021
0.60