En gap junction beta-subenhet med fyra transmembrandomäner som uttrycks i myeliniserande schwann-celler och är lokaliserad till perifert myelin (t.ex. icke-kompakt myelin i paranoden och Schmitt-Lanterman incisurer). Mutationer i den humana genen GJB1 är associerade med X-kromosombundet Charcot-Marie-Tooth sjukdom typ 1 (CMT1X).
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).
Inga svenska synonymer finns.
Gap Junction beta 1 Protein — Cx32 Protein — Protein, Cx32 — Connexin 32 — Connexin 32 Protein — Protein, Connexin 32 — Gap Junction beta1 Protein — Gap Junction B1 — GJB1 Protein — Protein, GJB1