Synonyms: CMTX; CMTX1; CX32
MDL No.: MFCD00803531
Storage: -20C
UNSPSC Code: 12352203
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General description: 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 acid 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)
Immunogen: GJB1 (AAH22426, 75 a.a. ~ 174 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCP
Physical form: Solution in phosphate buffered saline, pH 7.4
RIDADR: NONH for all modes of transport
WGK Germany: 3