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ACRC Rabbit Polyclonal Antibody, 20ul Metabolic enzymes Disease-associated mutations tend to be

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ACRC Rabbit Polyclonal Antibody, 20ul Metabolic enzymes Disease-associated mutations tend to be

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Description

Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product

Mutations in CTSD play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases

The protein encoded by this gene is an adaptor protein which contains five LIM domains

Alternatively spliced transcript variants encoding distinct isoforms have been identified for UBE3B

ACRC Rabbit Polyclonal Antibody, 20ul Metabolic enzymes Disease-associated mutations tend to be

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