CABP4 Polyclonal Antibody, 100ul Microplate Mixer Mutations in TSC1 have been

Mutations in TSC1 have been associated with tuberous sclerosis

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium

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Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS)

CABP4 Polyclonal Antibody, 100ul Microplate Mixer Mutations in TSC1 have beenThis gene encodes a member of the CABP family of calcium binding protein characterized by four EF hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene.