The complement component proteins, C1, C3, C4, and C5, are potent anaphylatoxins that are released during complement activation. Binding of these proteins to their respective G protein-coupled receptors induces proinflammatory events, such as cellular degranulation, smooth muscle contraction, arachidonic acid metabolism, cytokine release, leukocyte activation, and cellular chemotaxis. C1q, together with proenzymes C1r and C1s, yield C1, the first component of the classical pathway of the ser
This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms
缺氧诱导因子1Alpha不仅对于机体在缺氧条件下维持正常的生理功能具有特别重要的意义,并在肿瘤的生长以及神经细胞凋亡等病理过程中起重要作用. HIF1 alpha能调节许多下游基因的表达水平. 哺乳动物细胞在低氧压力条件下出现HIF。HIF是一种转录因子,对细胞的缺氧起稳定作用。
SCIN (Scinderin) is a Ca(2+) dependent actin filament severing protein that is presumed to have a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro SCIN also has barbed end capping and nucleating activities in the presence of Ca(2+).
Spermine synthase catalyzes the production of spermine from spermidine. Spermine, a polyamine ubiquitously present in most organisms, is essential for normal cell growth and differentiation. Because absence of spermine increases sensitivity of cells to anti-tumor agents, spermine synthase (and other polyamine biosynthesis) is an attractive target for anti-neoplastic therapy.
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TC