简述：This gene encodes a member of the chaperonin FAmily. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related FAmily member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. (provided by RefSeq)
简述：Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
简述：This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants.</p>
简述：Cytochrome c oxidase (COX) functions as the terminal oxidase of the respiratory chain that uses cytochrome c as an electron donor to drive a proton gradient across the inner mitochondrial membrane. The mammalian COX apoenzyme is a heteromer consisting of three mitochondrial encoded catalytic subunits and several nuclear gene encoded structural subunits. COX contains two iron-coordination sites and two copper-coordination sites. Cytochrome c oxidase IV (COX4) is a nuclear-encoded subunit of COX that may play a role in regulating COX activity. COX4 is expressed ubiquitously in adult human tissue with the strongest levels of expression in the pancreas and moderate expression levels in heart, skeletal muscle and placenta.
简述：This gene encodes a member of the beta tubulin protein FAmily. Beta tubulins are one of two core protein FAmilies (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.</p>
简述：Beta-actin (PS1TP5-binding protein 1), also known as ACTB, PS1TP5BP1. Entrez Protein NP_001092. It is one of six different actin proteins. Actin, a ubiquitous eukaryotic protein, is the major component of the cytoskeleton.Actins are highly conserved proteins that are involved in various types of cell motility, structure, and integrity. Actin is ubiquitously expressed in all eukaryotic cells. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins.
简述：Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is well known as one of the key enzymes involved in glycolysis. It catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. Besides its functioning as a glycolytic enzyme in cytoplasm, recent evidence suggest that mammalian GAPDH is also involved in a great number of intracellular proceses such as membrane fusion, microtubule bundling, phosphotransferase activity, nuclear RNA export, DNA replication, and DNA repair. During the last decade a lot of findings appeared concerning the role of GAPDH in different pathologies including prostate cancer progression, programmed neuronal cell death, age- related neuronal diseases, such as Alzheimer
简述：<p>This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. </p>
简述：This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. </p>
简述：This gene encodes a member of the beta tubulin protein FAmily. Beta tubulins are one of two core protein FAmilies (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.<br />
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