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Gap Junction Protein
Gap junction proteins ;Gap junction α (GJA) proteins * GJA1, gap junction alpha-1 protein * GJA2, gap junction alpha-2 protein * GJA3, gap junction alpha-3 protein * GJA4, gap junction alpha-4 protein * GJA5, gap junction alpha-5 protein * GJA6, gap junction alpha-6 protein * GJA7, gap junction alpha-7 protein * GJA8, gap junction alpha-8 protein * GJA9, gap junction alpha-9 protein * GJA10, gap junction alpha-10 protein * GJA11, gap junction alpha-11 protein * GJA12, gap junction alpha-12 protein ;Gap junction β (GJB) proteins * GJB1, gap junction beta-1 protein * GJB2, gap junction beta-2 protein * GJB3, gap junction beta-3 protein * GJB4, gap junction beta-4 protein * GJB5, gap junction beta-5 protein * GJB6, gap junction beta-6 protein * GJB7, gap junction beta-7 protein ;Gap junction γ (GJC) proteins * GJC1, gap junction gamma-1 protein * GJC2, gap junction gamma-2 protein * GJC3, gap junction gamma-3 protein ;Gap junction δ (GJD) proteins * GJD1, gap junction delta-1 pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gap Junction
Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulated gate between cells. One gap junction channel is composed of two protein hexamers (or hemichannels) called connexons in vertebrates and innexons in invertebrates. The hemichannel pair connect across the intercellular space bridging the gap between two cells. Gap junctions are analogous to the plasmodesmata that join plant cells. Gap junctions occur in virtually all tissues of the body, with the exception of adult fully developed skeletal muscle and mobile cell types such as sperm or erythrocytes. Gap junctions are not found in simpler organisms such as sponges and slime molds. A gap junction may also be called a ''nexus'' or ''macula communicans''. While an ephapse has some similarities to a gap junction, by modern definition the two a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB2
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the ''GJB2'' gene. Clinical significance Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or ''GJB2''-related deafness). One fairly common mutation is the deletion of one guanine from a string of six, resulting in a frameshift and termination of the protein at amino acid number 13. Having two copies of this mutation results in deafness. Connexin 26 also plays a role in tumor suppression through mediation of the cell cycle. The abnormal expression of Cx26, correlated with several types of human cancers, may serve as a prognostic factor for cancers such as colorectal cancer, breast cancer, and bladder cancer. Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion and by stimulating the self-perpetuation abi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJD3
Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the ''GJD2'' gene. Function This gene is a member of the large family of connexins that are required for the formation of gap junction Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulate ...s. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. References Further reading * * * * * * * * {{gene-17-stub Connexins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJD2
Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the ''GJD2'' gene. Function GJD2, also called connexin-36 (CX36), is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the ''GJB2'' gene. Clinical significance Defects in this gene lead to the most common form of congenital deafness in developed c ... for additional background information on connexins. References Further reading * * * * * * * * * External links * {{gene-15-stub Connexins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJC3
Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the ''GJC3'' gene. GJC3 is a conexin. Function This gene encodes a gap junction protein. The encoded protein is known as a connexin Connexins (Cx)TC# 1.A.24, or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Eac ..., most of which form gap junctions that provide direct connections between neighboring cells. However, Cx29, which is highly expressed in myelin-forming glial cells of the CNS and PNS, has not been documented to form gap junctions in any cell type. In both PNS and CNS myelinated axons, Cx29 is precisely colocalized with Kv1.2 voltage-gated K+ channels, where both proteins are concentrated in the juxtaparanode and along the inner mesaxon. By freeze-fracture immunogold labe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJC2
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the ''GJC2'' gene. Function This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination Myelin is a lipid-rich material that surrounds nerve cell axons (the nervous system's "wires") to insulate them and increase the rate at which electrical impulses (called action potentials) are passed along the axon. The myelinated axon can be ... in humans. Clinical significance Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphede ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJC1
Gap junction gamma-1 protein (GJC1), also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45) — is a protein that in humans is encoded by the ''GJC1'' gene. Function This gene is a member of the connexin gene family. The encoded protein is a component of gap junction Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulate ...s, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. References Further reading * * * * * * * * * * * * * * * * * * External links * * Connexins {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB7
Gap junction beta-7 protein (GJB7), also known as connexin-25 (Cx25), is a protein that in humans is encoded by the ''GJB7'' gene. Function Connexin Connexins (Cx)TC# 1.A.24, or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Each ...s, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits. References {{Gene-6-stub Connexins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB6
Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the ''GJB6'' gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated with Clouston syndrome (i.e., hydrotic ectodermal dysplasia). Function The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. Connexins span the plasma membrane 4 times, with amino- and carboxy-terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type-specific manner with overlapping specificity. The gap junction channels have unique properties depending on the type of connexins constituting the channel. upplied by OMIMref name="entrez"/> Connexin 30 is prevalent in the two disti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB5
Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the ''GJB5'' gene. Function Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin Connexins (Cx)TC# 1.A.24, or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Each ... protein subunits, which are encoded by a multigene family. References Further reading * * {{gene-1-stub Connexins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB4
Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the ''GJB4'' gene. References Further reading * * * * * * * * * * * * * {{gene-1-stub Connexins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
