Gjb1 Gene Search Result

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
732555	GJB1	gap junction protein beta 1	This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino a ... (more) cid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]	X	71215239	71225516	Human	1022	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]