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Tuberin Polyclonal Antibody, 50ul[BT-AP09286] Protein Research Mutations at this locus have

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Tuberin Polyclonal Antibody, 50ul[BT-AP09286] Protein Research Mutations at this locus haveMutations in TSC2 (tuberous sclerosis 2) 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.

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Description

Mutations at this locus have been linked to autosomal recessive deafness

May be required for chromosome segregation during cell division

ADIPOR1 (MIM 607945) and ADIPOR2

The lysophosphatidic acid receptor 1 encoded by LPAR1 is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors

and it is required for the association of centromere-associated protein E with the kinetochore

Tuberin Polyclonal Antibody, 50ul[BT-AP09286] Protein Research Mutations at this locus haveMutations in TSC2 (tuberous sclerosis 2) 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.

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