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This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. D
Calcyclin, also known as Protein S100-A6, growth factor-inducible protein 2A9, S-100 calcium-binding protein A6 (S-100A6) or MLN 4, is a homodimeric member of the S-100 calcium-binding protein family whose expression is upregulated in proliferating and differentiating cells. Calcyclin is inducible by growth factors and overexpressed in acute myeloid leukemias. It is expressed in a cell-specific manner in subpopulations of neurons and astrocytes and in epithelial cells and fibroblasts. Calc
Protein disulfide isomerase (PDIA6) ia an enzyme belonging to the protein disulfide isomerase family. Structurally, it contains 2 thioredoxin domains and its function is to catalyze the rearrangement of -S-S- bonds in proteins.
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial bio
Mitofusin 1 (Mfn1) and mitofusin 2 (Mfn2) are homologs for the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins and are mediators of mitochondrial fusion. A GTPase domain is required for Mfn protein function but the molecular mechanisms of the GTPase-dependent reaction as well as the functional division of the two Mfn proteins are unknown. They are essential for embryonic development and may play a role in the pathobiology of obesity. Although the Mfn1 and Mfn2
Steroid receptors are ligand-dependent, intracellular proteins that stimulate transcription of specific genes by binding to specific DNA sequences following activation by the appropriate hormone. Glucocorticoids are a family of steroids necessary for the regulation of energy metabolism and the immune and inflammatory responses. These compounds exert their effect through their interaction with the glucocoticoid receptor (GR) and that complex's subsequent association with DNA. All normal mamm