ACRC Rabbit Polyclonal Antibody, 20ul Metabolic enzymes Mutations in CTSD play a

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

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

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

This kinase is known to play a critical role in mitogen growth factor signal transduction

This gene is similar to other KCNN family potassium channel genes

ACRC Rabbit Polyclonal Antibody, 20ul Metabolic enzymes Mutations in CTSD play a