voltage-dependent L-type Ca+2 channel beta-4; CAB4; Ca+2 channel voltage-dependent subunit beta 4 (CACNB4, CACNLB4)

Function

• beta subunit of voltage-dependent Ca+2 channels, L-type Ca+2 channel subunit (1 of 4 subunits: alpha-1, alpha-2, beta & gamma)
• contributes to the function of the Ca+2 channel by increasing peak Ca+2 current, shifting the voltage dependencies of activation & inactivation, modulating G protein inhibition & controlling the alpha-1 subunit membrane targeting

Structure

• belongs to the Ca+2 channel beta subunit family
• contains 1 SH3 domain

Alternative splicing

named isoforms=2

Expression

• expressed predominantly in cerebellum & kidney

Pathology

• defects in CACNB4 are associated with
  • susceptibility to idiopathic generalized epilepsy
  • juvenile myoclonic epilepsy

More general terms

• voltage-dependent Ca+2 channel beta
• phosphoprotein

Additional terms

• L-type Ca+2 channel, long duration or slowly inactivating Ca+2 channel or dihydropyridine receptor (R-type Ca+2 channel)
• voltage-dependent Ca+2 channel

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=785
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:785
• OMIM: https://mirror.omim.org/entry/600669
• OMIM: https://mirror.omim.org/entry/601949
• OMIM: https://mirror.omim.org/entry/606904
• UniProt: http://www.uniprot.org/uniprot/O00305.html