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Protein Page:
GJA1 (human)

GJA1 an integral membrane protein of the connexin family, alpha-type (group II) subfamily. Hexamers of connexin-43 form connexons, which aggregate together to form gap junctions, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. 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: 6q22.31
Cellular Component: endoplasmic reticulum membrane; focal adhesion; gap junction; Golgi apparatus; Golgi membrane; integral to plasma membrane; lipid raft; mitochondrion; plasma membrane
Molecular Function: gap junction channel activity; ion transmembrane transporter activity; protein binding; signal transducer activity
Biological Process: cell-cell signaling; gap junction assembly; heart development; muscle contraction; negative regulation of cell growth; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; transport
Disease: Atrioventricular Septal Defect 3; Craniometaphyseal Dysplasia, Autosomal Recessive; Erythrokeratodermia Variabilis Et Progressiva; Hypoplastic Left Heart Syndrome 1; Oculodentodigital Dysplasia; Oculodentodigital Dysplasia, Autosomal Recessive; Palmoplantar Keratoderma And Congenital Alopecia 1; Syndactyly, Type Iii
Reference #:  P17302 (UniProtKB)
Alt. Names/Synonyms: connexin 43; Connexin-43; Cx43; CXA1; DFNB38; Gap junction 43 kDa heart protein; Gap junction alpha-1 protein; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJA1; GJAL; HSS; ODDD
Gene Symbols: GJA1
Molecular weight: 43,008 Da
Basal Isoelectric point: 8.96  Predict pI for various phosphorylation states
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