PMP2 Gene Summary [Human]
The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | PMP2 |
| Official Name | peripheral myelin protein 2 [Source:HGNC Symbol;Acc:HGNC:9117] |
| Ensembl ID | ENSG00000147588 |
| Bio databases IDs | |
| Aliases | peripheral myelin protein 2 |
| Synonyms | CMT1G, FABP8, LOC679370, M-FABP, MP2, P2, peripheral myelin protein 2 |
| 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 PMP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cholesterol binding
- lipocalin/cytosolic fatty acid-binding protein family
- fatty acid binding
- protein binding
- Lipocalin / cytosolic fatty-acid binding protein family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast carcinoma
- peripheral neuropathy
- Alzheimer disease
- demyelinating Charcot-Marie-Tooth disease type 1G
- experimental autoimmune neuritis
- Charcot-Marie-Tooth disease
- hereditary disorder
role in cell
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- fatty acid transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- myelin sheath
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- fatty acid binding
- cholesterol binding