Pmp22 Gene Summary [Mouse]
Enables cytoskeletal motor activity and protein serine/threonine kinase inhibitor activity. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic process; and regulation of gene expression. Located in several cellular components, including cell surface; compact myelin; and perinuclear region of cytoplasm. Part of integrin complex and laminin complex. Is expressed in several structures, including alimentary system; intraembryonic coelom; lung; musculoskeletal system; and nervous system. Used to study Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 3; and hereditary neuropathy with liability to pressure palsies. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pmp22 |
| Official Name | peripheral myelin protein 22 [Source:MGI Symbol;Acc:MGI:97631] |
| Ensembl ID | ENSMUSG00000018217 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal Schwann cell morphology
- abnormal Schwann cell physiology
- abnormal action potential
- abnormal autophagy
- abnormal axon morphology
- abnormal cell physiology
- abnormal dorsal root ganglion morphology
- abnormal gait
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal myelin sheath morphology
- abnormal myelination
- abnormal neuron morphology
- abnormal sexual interaction
- ataxia
- axon degeneration
- convulsive seizures
- deafness
- decreased body size
- decreased grip strength
- decreased myelin sheath thickness
- decreased nerve conduction velocity
- decreased survivor rate
- demyelination
- dysmyelination
- forelimb paralysis
- hindlimb paralysis
- hypoactivity
- impaired coordination
- impaired hearing
- impaired righting response
- increased Schwann cell number
- increased Schwann cell proliferation
- increased circulating alkaline phosphatase level
- increased or absent threshold for auditory brainstem response
- lethality at weaning complete penetrance
- limb grasping
- muscle degeneration
- muscle weakness
- postnatal growth retardation
- postnatal lethality
- reduced male fertility
- seizures
- spasticity
- tremors
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 mouse 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