Disease-gene associations mined from literature

Literature associating CACNG2 and congenital muscular dystrophy-dystroglycanopathy type A6

CACNG2 [ENSP00000300105]

Neuronal voltage-gated calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.

Synonyms:  CACNG2,  CACNG2p,  hCACNG2,  Q9Y698,  Q9Y698p ...

Linkouts:  STRING  Pharos  UniProt  OMIM