DISEASES

Disease-gene associations mined from literature

Literature associating CACNG7 and isolated growth hormone deficiency type IB

CACNG7 [ENSP00000375647]

Neuronal voltage-gated calcium channel gamma-7 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 and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.

Synonyms:  CACNG7,  CACNG7p,  hCACNG7,  CACNG7-001,  CACNG7-002 ...

Linkouts:  STRING  Pharos  UniProt