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Human fascin is a highly conserved actin-bundling protein. Fascin, encoded by the human homolog for sn (hsn) gene, has been localized to microspikes and stress fibers of cultured cells where it is thought to be involved in the formation of microfilament bundles. It is expressed predominantly in dendritic cells. Lymphoid cells, myeloid cells and plasma cells are negative. However, Reed Sternberg cells in Hodgkin’s lymphoma are positive for fascin staining. Epstein-Barr virus may induce expres
The HB9 homeobox transcription factor regulates gene expression during embryonic development and also in specific adult tissues. HB9 gene mutations are implicated in Curriano syndrome, which is characterized by a triad consisting of a presacral tumor, sacral agenesis and anorectal malformation. In human bone marrow cells, HB9 expression directly correlates with CD34 expression. Furthermore, HB9 expression increases in CD34+ cells that are treated with IL-3 and granulocyte macrophage-colony-s
This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue)
Eg5 is a motor protein that belongs to the kinesin-like family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis.
Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Asso
Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008].