Gap Junction beta-1 Protein [protein beta 1 mezerového spoje]
- Terms
-
connexin 32
mezerový spoj B1
protein GJB1
-
Connexin 32
Connexin 32 Protein
Cx32 Protein
Gap Junction B1
Gap Junction beta1 Protein
GJB1 Protein
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).
- DUI
- D000097002 MeSH Browser
- CUI
- M000762845
- History note
- 2024(1993)
- Public note
- 2024; see under CONNEXINS 1993-2023
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