CACB1 Rabbit Polyclonal Antibody, 20ul Cell Culture Flasks Mutations in this gene cause

Mutations in this gene cause congenital adrenal hyperplasia

and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events

Some individuals| as represented by the reference genome allele| contain a 2kb coding region deletion and a start code mutation

DsbA is reoxidized by dsbB

CACB1 Rabbit Polyclonal Antibody, 20ul Cell Culture Flasks Mutations in this gene causeThe protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha 1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.