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)
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000097002
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