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This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq].

The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. MARCH8 (membrane-associated ring finger (C3HC4) 8), also known as MIR or RNF178 (RING finger protein 178), is a 291 amino acid multi-pass membrane protein that localizes to vesicle membranes and contain

Members of the leucine-rich repeat family include LRCH1, LRCH2, LRCH3 and LRCH4. All family members contain one calponin-homology domain and nine leucine-rich repeats. The gene encoding LRCH1, also known as Neuronal protein 81 (NP81), has been suggested to be a possible gene locus for susceptibility to osetoarthritis, especially in women, though studies have shown conflicting results. LRCH1 is a 728 amino acid protein that is expressed at highest levels in cerebellum, with lower levels of exp

KCNC1 mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. It forms a heteromultimer with KCNG3, KCNG4 and KCNV2.

The family of insulin receptor substrates (IRSs) has been reported to play important roles for signal transduction of various hormones. Four members of the IRS family have been described. Each IRS is believed to have different functions; however, the distinct physiological roles of each IRS are unclear. Summary: This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a

p21-activated kinases (PAKs) belong to the family of serine/threonine kinases involved in the control of various cellular processes, including the cell cycle, dynamics of the cytoskeleton, apoptosis, oncogenic transformation, and transcription. All PAK family members are characterized by the presence of p21-binding domain. p21-activated kinases are regulated by the small GTP-binding proteins Rac and Cdc42, and lipids, which stimulate autophosphorylation and phosphorylation of exogenous subs