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pmp22

  • Peripheral myelin protein 22
  • 22 (PMP22), also called Growth arrest-specific protein 3 (GAS-3), is a protein which in humans is encoded by the PMP22 gene. Mutations in PMP22 cause

  • Hereditary neuropathy with liability to pressure palsy
  • days to weeks or even months. HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22. This protein has a role in the

  • Charcot–Marie–Tooth disease
  • a large region on the short arm of chromosome 17 that includes the gene PMP22. Chromosome 1 Some mutations affect the gene MFN2, on chromosome 1, which

  • Claudin
  • PMP22_Claudin Identifiers Symbol PMP22_Claudin Pfam PF00822 Pfam clan CL0375 InterPro IPR004031 PROSITE PDOC01045 TCDB 1.H.1 OPM superfamily 194 OPM protein

  • Tight junction proteins
  • loop of occludin maintains the blood-testis barrier and spermatogenesis. PMP22/gas-3, called peripheral myelin protein, is located in the myelin sheath

  • Chromosome abnormality
  • caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Inversions: A portion of the chromosome has broken off

  • Dejerine–Sottas disease
  • in myelin. Specifically, it has been associated with mutations in MPZ, PMP22, PRX, and EGR2 genes. The disorder is inherited in an autosomal dominant

  • Dejerine–Roussy syndrome
  • CI; Holland; Beson; Parke; Prodan (2008). "A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome". Journal of Neurology. 255 (9):

  • List of genetic disorders
  • Cystic fibrosis CFTR (7q31.2) D or S 1:100,000 Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500 CHARGE syndrome CHD7 1:8,500-10,000 Chédiak–Higashi syndrome

  • Calnexin
  • with mutant misfolded PMP22 known to cause Charcot-Marie-Tooth Disease leads to the sequestration, degradation and inability of PMP22 to traffic to the Schwann

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Astrological/horoscope meaning of pmp22. pmp22 means: undefined

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pmp22

    P: Meaning of P in the acronym pmp22 means: P has a heavy top standing on just a point to show it's strenght. It means strong, the ability tp perceive weakness and opportunities easily and clear-sightedness. By standing on its own, it shows self-centeredness, a thriving attitude and rigorousness. P also shows disconnection, strong will to go even alone and impartiality.

    M: Meaning of M in the acronym pmp22 means: While M stands on two points, it has three projections pointing downwards. M is dracious, stable and temperamental. M could also be overwhelming with a great strenght of character and a strong in mind.

    2: Meaning of 2 in the acronym pmp22 means: undefined

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