TSC2 Summary

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

TSC2 Details

Gene Symbol : TSC2

Gene Name : TSC complex subunit 2

Chromosome : CHR 16: 204,780,3-208,871,9

Locus : 16p13.3

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MAPK8IP3 Summary

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

MAPK8IP3 Details

Gene Symbol : MAPK8IP3

Gene Name : Mitogen-activated protein kinase 8 interacting protein 3

Chromosome : CHR 16: 170,618,2-177,031,6

Locus : 16p13.3

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