GJB1 One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Belongs to the connexin family. Beta-type (group I) subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, misc.; Membrane protein, integral; Membrane protein, multi-pass; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: Xq13.1
Cellular Component:  connexin complex; endoplasmic reticulum membrane; integral component of membrane; lateral plasma membrane
Molecular Function:  gap junction channel activity; protein homodimerization activity
Biological Process:  cell-cell signaling; epididymis development; gap junction assembly; nervous system development; protein complex oligomerization; purine ribonucleotide transport; transmembrane transport
Disease: Charcot-marie-tooth Disease, X-linked Dominant, 1
Reference #:  P08034 (UniProtKB)
Alt. Names/Synonyms: CMTX; CMTX1; connexin 32; Connexin-32; CX32; CXB1; GAP junction 28 kDa liver protein; Gap junction beta-1 protein; gap junction protein beta 1; gap junction protein, beta 1, 32kDa; GJB1
Gene Symbols: GJB1
Molecular weight: 32,025 Da
Basal Isoelectric point: 9.19  Predict pI for various phosphorylation states
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GJB1

Protein Structure Not Found.


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