Gap Junction beta-1 Protein

**Definition:** 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).

**Tree numbers:** - D12.776.543.585.250.600

**Synonyms:** - Gap Junction B1 - Cx32 Protein - GJB1 Protein - Connexin 32 Protein - Gap Junction beta1 Protein - Connexin 32