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POK6 Rabbit Polyclonal Antibody, 50ul Digital Burette Mutations in this gene have

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POK6 Rabbit Polyclonal Antibody, 50ul Digital Burette Mutations in this gene have

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Description

Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2)

due to the N-terminal 1-49 amino acid sequence that could be cut down

This protein interacts with DNA ligase III

Mutations that alter the jagged 1 protein cause Alagille syndrome

The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart

POK6 Rabbit Polyclonal Antibody, 50ul Digital Burette Mutations in this gene have

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