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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

This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants enc

KLF10 is a transcription factor that plays a role in the regulation of cell growth. It binds to the consensus sequence 5'-GGTGTG-3'. KLF10 plays a role in the response to TGFbeta (through the TGFbeta/Smad signalling pathway) and estrogen. In both cases, KLF10 induces or repressed gene transcription to enhance the TGFbeta/Smad signalling pathway, as well as other pathways, to regulate cell proliferation, differentiation and apoptosis. KLF10 has been shown to have a role in skeletal disease (