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NCK1 Polyclonal Antibody, 20ul Centrifuge Tube (Bottle) Mutations in this gene cause

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NCK1 Polyclonal Antibody, 20ul Centrifuge Tube (Bottle) Mutations in this gene causeThe protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found.

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Description

Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome

MAGUKs interact with the cytoskeleton and regulate cell proliferation| signaling pathways| and intracellular junctions

possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex

which can result in infantile death

The specific function of this protein has not been determined but it has been proposed as a marker of lung injury

NCK1 Polyclonal Antibody, 20ul Centrifuge Tube (Bottle) Mutations in this gene causeThe protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found.

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