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This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

The protein encoded by this gene is a member of the MAPkinase family. MAP kinases, also known as extracellularsignal-regulated kinases (ERKs), act in a signaling cascade thatregulates various cellular processes such as proliferation,differentiation, and cell cycle progression in response to avariety of extracellular signals. This kinase is activated byupstream kinases, resulting in its translocation to the nucleuswhere it phosphorylates nuclear targets. Alternatively splicedtranscript variants

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independen

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 belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple t

HDAC6 is a member of the class II mammalian histone deacetylases. Human HDAC6 is composed of 1215 amino acid residues. It possesses two separate putative catalytic domains. Both catalytic domains are fully functional HDACs and contribute independently to the overall activity of HDAC6 protein. A very potent NES is present at the amino-terminus of HDAC6, which was found to play an important role in regulating the shuttling of HDAC6 protein between cytoplasm and nucleus. The shuttling process ma