LIPN Gene Summary [Human]
The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
Details
| Type | Retained Intron |
| Official Symbol | LIPN |
| Official Name | lipase family member N [Source:HGNC Symbol;Acc:HGNC:23452] |
| Ensembl ID | ENSG00000204020 |
| Bio databases IDs | |
| Aliases | lipase family member N |
| Synonyms | ARCI8, bA186O14.3, LI4, lipase family member N, lipase, family member N, LIPL4, RGD1560354 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LIPN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha/beta hydrolase fold
- alpha/beta hydrolases
- Serine aminopeptidase, S33
- Partial alpha/beta-hydrolase lipase region
- enzyme
- lipoprotein lipase
Pathways
Biological processes and signaling networks where the LIPN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lamellar ichthyosis
- autosomal recessive congenital ichthyosis type 8
regulated by
- tretinoin
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LIPN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid catabolic process
- cornification
Cellular Component
Where in the cell the gene product is active
- extracellular region
Molecular Function
What the gene product does at the molecular level
- lipoprotein lipase activity