Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32), is a transmembrane protein that in humans is encoded by the GJB1 gene.

Jun 18, 1998 · GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limited episodes of …

The GJB1 gene provides instructions for making a protein called connexin-32 (also known as gap junction beta 1). This protein is a member of the gap junction connexin family, which plays a …

Mutations in GJB1, the gene that encodes the gap junction (GJ) protein connexin32 (Cx32) cause CMT1X; more than 400 different mutations have been described. Many Cx32 mutants fail to …

Mar 10, 2017 · The large number of noncoding mutations in GJB1 (11.4% of our cohort of 219 GJB1 patients) is of interest and highlights the importance of mutations in noncoding DNA in …

X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a genetic disorder caused by mutations in the GJB1 gene. Symptoms usually start during childhood. The condition affects a person's …

Mar 30, 2025 · GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and …

Apr 7, 2025 · Title: A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a …

Feb 8, 2025 · Clinical resource with information about GJB1, Charcot-Marie-Tooth disease X-linked dominant 1, and available tests. There are links to practice guidelines and authoritative …

Charcot–Marie–Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta‐1 gene (GJB1), is the second most common form of Charcot–Marie–Tooth …