Disease-gene associations mined from literature

Literature associating GABRP and episodic ataxia type 4

GABRP [ENSP00000430100]

Gamma-aminobutyric acid (GABA) A receptor, pi; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily.

Synonyms:  GABRP,  B3KNX4,  E5RG98,  E5RGF7,  E5RHF6 ...

Linkouts:  STRING  Pharos  UniProt