PNPLA8 Gene Summary [Human]
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
Details
| Type | Protein Coding |
| Official Symbol | PNPLA8 |
| Official Name | patatin like phospholipase domain containing 8 [Source:HGNC Symbol;Acc:HGNC:28900] |
| Ensembl ID | ENSG00000135241 |
| Bio databases IDs | |
| Aliases | patatin like phospholipase domain containing 8, calcium-independent phospholipase A2-gamma |
| Synonyms | 1200006O19Rik, IPLA2-2, IPLA2G, IPLA2 gamma, IPLA2(gamma), IPLA2 γ, IPLA2(γ), MMLA, patatin-like phospholipase domain containing 8, PNPLA-gamma, PNPLA-γ, RGD1311444 |
| 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 PNPLA8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Patatins and Phospholipases
- calcium-independent phospholipase A2
- enzyme
- phospholipase A2
Pathways
Biological processes and signaling networks where the PNPLA8 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
- weight gain
- schizophrenia
- hereditary disorder
- mitochondrial myopathy with lactic acidosis
- hyperinsulinism
- insulin resistance
- impaired glucose tolerance
- kyphosis
- myopia
- growth failure
role in cell
- growth
- activation in
- production in
- expression in
- cell death
- quantity
- function
- phosphorylation in
- number
- respiration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Mitochondria
- endoplasmic reticulum membrane
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNPLA8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid homeostasis
- linoleic acid metabolic process
- fatty acid metabolic process
- phosphatidylethanolamine catabolic process
- regulation of cellular response to oxidative stress
- phosphatidylcholine catabolic process
- arachidonic acid secretion
- prostaglandin biosynthetic process
- cardiolipin metabolic process
- triglyceride homeostasis
- arachidonic acid metabolic process
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- peroxisomal membrane
- peroxisome
- mitochondrial membrane
- membrane
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- lysophospholipase activity
- ATP binding
- calcium-independent phospholipase A2 activity
- phosphatidylcholine 1-acylhydrolase activity