This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq].

SGK1 is a protein kinase that plays an important role in cellular stress response. SGK1 activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. Sustained high levels of SGK1 and activity may contribute to conditions such as hypertension and diabetic nephropathy. This protein also mediates cell survival signals, as it has been shown to phosphorylate and nega

$nActins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.Actin proteins have ve

Microtubules are polymers of alpha and beta subunits that form the mitotic spindle and assist in the organization of membranous organelles during interphase. Katanin p60 A1, also known as KATNA1, is a 491 amino acid protein that belongs to the AAA ATPase family and is involved in microtubule regulation. Localized to the cytoplasm and to the centrosome, Katanin p60 A1 functions to sever and disassemble microtubules in an ATP-dependent manner, thus promoting the rapid reorganization of cellu

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encod