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26395 Ensembl ENSG00000169032 ENSMUSG00000004936 UniProt Q02750 P31938 RefSeq (mRNA) NM_002755 NM_008927 RefSeq (protein) NP_002746 NP_032953 Location (UCSC) Chr 15: 66.39 – 66.49 Mb Chr 9: 64.09 – 64.16 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Dual specificity mitogen-activated protein kinase kinase 1 is an enzyme that in humans is encoded by the MAP2K1 gene. Function The ...
Mitogen-activated protein kinase kinase (also known as MAP2K, MEK, MAPKK) is a dual-specificity kinase enzyme which phosphorylates mitogen-activated protein kinase (MAPK). ...
Given these parameters, exon skipping can be used to restore an open reading frame by inducing a deletion of one or several exons within the central rod domain, and thus converting a DMD phenotype into a BMD phenotype. The genetic mutation that leads to Becker muscular dystrophy is an in-frame deletion. This means that, out of the 79 exons that ...
In contrast, a deletion that is evenly divisible by three is called an in-frame deletion. [ 8 ] Deletions are responsible for an array of genetic disorders, including some cases of male infertility , two thirds of cases of Duchenne muscular dystrophy , [ 1 ] and two thirds of cases of cystic fibrosis (those caused by ΔF508 ). [ 9 ]
A mitogen-activated protein kinase (MAPK or MAP kinase) is a type of serine/threonine-specific protein kinases involved in directing cellular responses to a diverse array of stimuli, such as mitogens, osmotic stress, heat shock and proinflammatory cytokines.
The protein encoded by this gene was identified as an interacting protein that binds specifically to MAP kinase kinase MAP2K1/MEK1 and to MAP kinase MAPK2/ERK1. This protein enhances the activation of MAPK2, and thus is thought to function as an adaptor to enhance the efficiency of the MAP kinase cascade. [7]
In molecular biology, extracellular signal-regulated kinases (ERKs) or classical MAP kinases are widely expressed protein kinase intracellular signalling molecules that are involved in functions including the regulation of meiosis, mitosis, and postmitotic functions in differentiated cells.
A 32 base pair deletion in CCR5 has been identified as a mutation that negates the likelihood of an HIV infection. This region on the open reading frame ORF contains a frameshift mutation leading to a premature stop codon. This leads to the loss of the HIV-coreceptor function in vitro.