PMP22, peripheral myelin protein 22

PMP22, peripheral myelin protein 22

• 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]

• Gene Synonyms (peripheral myelin protein 22, Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia), growth arrest-specific protein 3, peripheral myelin protein 22 kDa, CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110,)
• NCBI Gene ID: 5376
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A8MU75
  UNIPROT ID#>>Q6FH25
  UNIPROT ID#>>Q01453
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

peripheral myelin protein 22 interacts with:

• ADP ribosylation factor like GTPase 13B
  apolipoprotein L3
  ATPase H+ transporting accessory protein 2
  cAMP responsive element binding protein 3
  cAMP responsive element binding protein 3 like 1
  chromosome 16 open reading frame 54
  claudin 18
  claudin 5
  claudin 6
  C-type lectin domain containing 14A
  C-type lectin domain family 12 member B
  DExD-box helicase 52
  EBP cholestenol delta-isomerase
  ERGIC and golgi 3
  family with sequence similarity 209 member A
  G protein-coupled receptor 61
  G protein-coupled receptor class C group 5 member D
  membrane spanning 4-domains A7
  PDZK1 interacting protein 1
  peroxisomal biogenesis factor 19
  progesterone receptor membrane component 2
  receptor accessory protein 4
  retention in endoplasmic reticulum sorting receptor 1
  shisa like 1
  small integral membrane protein 3
  sodium voltage-gated channel beta subunit 3
  solute carrier family 18 member A1
  solute carrier family 38 member 1
  sperm acrosome associated 1
  synaptotagmin 2
  syndecan 4
  synoviolin 1
  tetraspanin 12
  thioredoxin related transmembrane protein 1
  TLC domain containing 4
  transmembrane 4 L six family member 18
  transmembrane 4 L six family member 19
  transmembrane protein 139
  transmembrane protein 14B
  transmembrane protein 30B
  transmembrane protein 31

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.