PMP22
entrez
5376
canonical
uniprot
Q01453
canonical
ensembl
ENSG00000109099
resolver
ensp
ENSP00000308937
resolver
ensp
ENSP00000379268
resolver
ensp
ENSP00000484631
resolver
ensp
ENSP00000494628
resolver
ensp
ENSP00000494871
resolver
ensp
ENSP00000496522
resolver
ensp
ENSP00000501546
resolver
ensp
ENSP00000501557
resolver
ensp
ENSP00000501727
resolver
ensp
ENSP00000501804
resolver
ensp
ENSP00000502018
resolver
ensp
ENSP00000502310
resolver
ensp
ENSP00000502601
resolver
ensp
ENSP00000502835
resolver
ensp
ENSP00000571427
resolver
ensp
ENSP00000571428
resolver
ensp
ENSP00000571429
resolver
ensp
ENSP00000571432
resolver
ensp
ENSP00000571433
resolver
ensp
ENSP00000623690
resolver
ensp
ENSP00000623691
resolver
ensp
ENSP00000623692
resolver
ensp
ENSP00000623693
resolver
ensp
ENSP00000623694
resolver
ensp
ENSP00000623695
resolver
ensp
ENSP00000720491
resolver
enst
ENST00000312280
resolver
enst
ENST00000395936
resolver
enst
ENST00000612492
resolver
enst
ENST00000643451
resolver
enst
ENST00000644020
resolver
enst
ENST00000646419
resolver
enst
ENST00000674651
resolver
enst
ENST00000674673
resolver
enst
ENST00000674868
resolver
enst
ENST00000675350
resolver
enst
ENST00000675808
resolver
enst
ENST00000675819
resolver
enst
ENST00000675950
resolver
enst
ENST00000676221
resolver
enst
ENST00000901368
resolver
enst
ENST00000901369
resolver
enst
ENST00000901370
resolver
enst
ENST00000901373
resolver
enst
ENST00000901374
resolver
enst
ENST00000953631
resolver
enst
ENST00000953632
resolver
enst
ENST00000953633
resolver
enst
ENST00000953634
resolver
enst
ENST00000953635
resolver
enst
ENST00000953636
resolver
genesymbol
PMP22
resolver
genesymbol_syn
GAS3
resolver
hgnc
HGNC:9118
resolver
uniprot
A0A0K2GND9
resolver
uniprot
A0A2R8Y5L5
resolver
uniprot
A8MU75
resolver
uniprot
Q6FH25
resolver
uniprot
Q8WV01
resolver
uniprot_entry
A0A0K2GND9_HUMAN
resolver
uniprot_entry
A0A2R8Y5L5_HUMAN
resolver
uniprot_entry
A8MU75_HUMAN
resolver
uniprot_entry
PMP22_HUMAN
resolver
uniprot_entry
Q6FH25_HUMAN
resolver
uniprot_sec
Q8WV01
resolver
amino_acid_sequence
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 1A (CMT1A) [MIM:118220]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269|PubMed:10489052, ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:11140841, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:1303281, ECO:0000269|PubMed:15205993, ECO:0000269|PubMed:8252046, ECO:0000269|PubMed:8510709, ECO:0000269|PubMed:8615087, ECO:0000269|PubMed:8655153, ECO:0000269|PubMed:8777804, ECO:0000269|PubMed:9040744}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269|PubMed:10211478, ECO:0000269|PubMed:10663978, ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:12090401, ECO:0000269|PubMed:7675244, ECO:0000269|PubMed:7728152, ECO:0000269|PubMed:8252046, ECO:0000269|PubMed:8275092, ECO:0000269|PubMed:8995589, ECO:0000269|PubMed:9004143, ECO:0000269|PubMed:9055797, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9452053, ECO:0000269|PubMed:9544841, ECO:0000269|PubMed:9585367, ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9888385}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. {ECO:0000269|PubMed:12796555, ECO:0000269|PubMed:15205993, ECO:0000269|PubMed:9748013}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 1E (CMT1E) [MIM:118300]: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. {ECO:0000269|PubMed:10330345, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12578939, ECO:0000269|PubMed:15099592}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]: Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. {ECO:0000269|PubMed:12439896}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
uniprot
proteins
mass_dalton
17891
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation. {ECO:0000250|UniProtKB:P16646}.
uniprot
proteins
protein_family
PMP-22/EMP/MP20 family
uniprot
proteins
pubmed
10211478
uniprot
proteins
pubmed
10330345
uniprot
proteins
pubmed
10489052
uniprot
proteins
pubmed
10632107
uniprot
proteins
pubmed
10663978
uniprot
proteins
pubmed
10737979
uniprot
proteins
pubmed
11140841
uniprot
proteins
pubmed
11438991
uniprot
proteins
pubmed
11835375
uniprot
proteins
pubmed
12090401
uniprot
proteins
pubmed
12402337
uniprot
proteins
pubmed
12439896
uniprot
proteins
pubmed
12497641
uniprot
proteins
pubmed
12578939
uniprot
proteins
pubmed
12796555
uniprot
proteins
pubmed
1303210
uniprot
proteins
pubmed
1303228
uniprot
proteins
pubmed
1303281
uniprot
proteins
pubmed
1497668
uniprot
proteins
pubmed
15099592
uniprot
proteins
pubmed
15205993
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16437560
uniprot
proteins
pubmed
21827951
uniprot
proteins
pubmed
7518101
uniprot
proteins
pubmed
7675244
uniprot
proteins
pubmed
7728152
uniprot
proteins
pubmed
7762451
uniprot
proteins
pubmed
8252046
uniprot
proteins
pubmed
8275092
uniprot
proteins
pubmed
8482547
uniprot
proteins
pubmed
8510709
uniprot
proteins
pubmed
8615087
uniprot
proteins
pubmed
8655153
uniprot
proteins
pubmed
8777804
uniprot
proteins
pubmed
8988161
uniprot
proteins
pubmed
8995589
uniprot
proteins
pubmed
9004143
uniprot
proteins
pubmed
9040744
uniprot
proteins
pubmed
9055797
uniprot
proteins
pubmed
9187667
uniprot
proteins
pubmed
9452053
uniprot
proteins
pubmed
9452099
uniprot
proteins
pubmed
9544841
uniprot
proteins
pubmed
9585367
uniprot
proteins
pubmed
9633821
uniprot
proteins
pubmed
9748013
uniprot
proteins
pubmed
9888385
uniprot
proteins
sequence_length
160
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21827951}; Multi-pass membrane protein {ECO:0000269|PubMed:21827951}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..31; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 65..91; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 96..119; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 134..156; /note="Helical"; /evidence="ECO:0000250
uniprot
proteins