PMP22 Gene Summary [Human]
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | PMP22 |
| Official Name | peripheral myelin protein 22 [Source:HGNC Symbol;Acc:HGNC:9118] |
| Ensembl ID | ENSG00000109099 |
| Bio databases IDs | |
| Aliases | peripheral myelin protein 22 |
| Synonyms | CIDP, CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, PERIPHERAL MYELIN protein 22, Sp110, Sr13, Tr, TRE002, trembler |
| 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 PMP22 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase inhibitor
- N-linked glycosylation site
- transmembrane domain
- PMP-22/EMP/MP20/Claudin family
- protein binding
- motor protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hereditary disorder
- gastric cancer
- osteosarcoma
- osteosarcomagenesis
- organismal death
- Charcot-Marie-Tooth disease type 1
- Charcot-Marie-Tooth disease type 1A
- Dejerine-Sottas disease
- acute myeloid leukemia
role in cell
- expression in
- cell death
- apoptosis
- proliferation
- quantity
- phosphorylation in
- growth
- formation
- activation in
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-insoluble fractions
- membrane fraction
- Cytoplasm
- cell surface
- perinuclear region
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- membrane compartment
- cell-cell contacts
- nerve ending
- myelin sheath
- tight junctions
- apical cell-cell contacts
- detergent insoluble microdomains
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMP22 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bleb assembly
- negative regulation of neuron projection development
- negative regulation of cell proliferation
- apoptotic process
- cell differentiation
- peripheral nervous system development
- synaptic transmission
- myelin assembly
Cellular Component
Where in the cell the gene product is active
- compact myelin
- tight junction
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding