GJA1 Antibody – Rabbit Polyclonal

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.

Protein type: Channel, misc.; Membrane protein, multi-pass; Membrane protein, integral; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 6q22.31

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; focal adhesion; contractile fiber; lysosome; integral to plasma membrane; early endosome; intermediate filament; fascia adherens; cytosol; lipid raft; Golgi membrane; connexon complex; multivesicular body; mitochondrial outer membrane; apical plasma membrane; plasma membrane; gap junction; lateral plasma membrane

Molecular Function: signal transducer activity; protein binding; ion transmembrane transporter activity; beta-tubulin binding; SH3 domain binding; gap junction channel activity; PDZ domain binding; receptor binding

Biological Process: lens development in camera-type eye; response to peptide hormone stimulus; apoptosis; heart development; neuron migration; milk ejection; signal transduction; positive regulation of vasodilation; elevation of cytosolic calcium ion concentration; cell-cell signaling; muscle contraction; transport; positive regulation of glomerular filtration; negative regulation of cardiac muscle cell proliferation; response to glucose stimulus; positive regulation of striated muscle development; heart looping; ATP transport; adult heart development; chronic inflammatory response; positive regulation of I-kappaB kinase/NF-kappaB cascade; gap junction assembly; in utero embryonic development; epithelial cell maturation; regulation of bone remodeling; positive regulation of insulin secretion; skeletal muscle regeneration; regulation of calcium ion transport; vascular transport; protein oligomerization; osteoblast differentiation; positive regulation of osteoblast differentiation; negative regulation of endothelial cell proliferation; positive regulation of protein catabolic process; positive regulation of vasoconstriction; blood vessel morphogenesis; embryonic digit morphogenesis; regulation of bone mineralization; neurite morphogenesis; response to pH

Disease: Syndactyly, Type Iii; Craniometaphyseal Dysplasia, Autosomal Recessive; Palmoplantar Keratoderma And Congenital Alopecia 1; Atrioventricular Septal Defect 3; Oculodentodigital Dysplasia; Erythrokeratodermia Variabilis Et Progressiva; Oculodentodigital Dysplasia, Autosomal Recessive; Hypoplastic Left Heart Syndrome 1