ARHGDIA Summary

This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ARHGDIA Details

Gene Symbol : ARHGDIA

Gene Name : Rho GDP dissociation inhibitor alpha

Chromosome : CHR 17: 818,714,05-818,677,18

Locus : 17q25.3

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SQSTM1 Summary

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]

SQSTM1 Details

Gene Symbol : SQSTM1

Gene Name : Sequestosome 1

Chromosome : CHR 5: 179,806,387-179,838,077

Locus : 5q35.3

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