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Concept information

Preferred term

Gap Junction beta-1 Protein  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Connexin 32
  • Connexin 32 Protein
  • Cx32 Protein
  • Gap Junction B1
  • Gap Junction beta1 Protein
  • GJB1 Protein
  • Protein, Connexin 32
  • Protein, Cx32
  • Protein, GJB1

Scope note

  • A GAP JUNCTION beta subunit containing four transmembrane domains expressed in myelinating SCHWANN CELLS and is localized to peripheral MYELIN (e.g., noncompact myelin in the paranode and Schmitt-Lanterman incisures). Mutations in the human gene GJB1 are associated with X-linked CHARCOT-MARIE-TOOTH DISEASE type 1 (CMT1X).

History note

  • 2024(1993)

URI

http://www.yso.fi/onto/mesh/D000097002

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