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The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

Endoplasmic reticulum proteins (ERps) are widely expressed proteins and localize to the ER. ERp19, ERp29, ERp46, ERp57 and ERp72 may act as proteases, protein disulfide isomerases, thiol-disulfide oxidases, phospholipases or a combination of these. ERp19, also designated thioredoxin domain-containing protein 12 (TXNDC12), and ERp46, also designated thioredoxin domain containing 5 (TXNDC5), belong to the thioredoxin superfamily and contain a thioredoxin fold with a consensus active-site sequ

May be a transcription factor required for the apoptosis response following survival factor withdrawal from myeloid cells. Might also have a role in the development and maturation of lymphoid cells.

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

缺氧誘導(dǎo)因子1Alpha不僅對(duì)于機(jī)體在缺氧條件下維持正常的生理功能具有特別重要的意義,并在腫瘤的生長(zhǎng)以及神經(jīng)細(xì)胞凋亡等病理過(guò)程中起重要作用. HIF1 alpha能調(diào)節(jié)許多下游基因的表達(dá)水平. 哺乳動(dòng)物細(xì)胞在低氧壓力條件下出現(xiàn)HIF。HIF是一種轉(zhuǎn)錄因子，對(duì)細(xì)胞的缺氧起穩(wěn)定作用。