PMP22
Peripheral myelin protein 22
Protein Summary
Might be involved in growth regulation, and in myelinization in the peripheral nervous system. 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]
- ENST00000312280
- ENSP00000308937
- ENSG00000109099
- ENST00000395938
- ENSP00000379269
- ENST00000612492
- ENSP00000484631
- GAS3
- DSS
- CIDP
- GAS3
- HNPP
- CMT1A
- CMT1E
- GAS-3
- Sp110
- HMSNIA
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
PubMedID | 1 | ||
transcription factor perturbation | 0.99 | ||
disease perturbation | 0.93 | ||
kinase perturbation | 0.84 | ||
small molecule perturbation | 0.82 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 446.64 (req: < 5)
Gene RIFs: 134 (req: <= 3)
Antibodies: 359 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 446.64 (req: >= 5)
Gene RIFs: 134 (req: > 3)
Antibodies: 359 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 8
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0