Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
Function
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Involvement in disease
Night blindness, congenital stationary, 1H
CSNB1H
A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat G protein beta family.
Alternative names
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3, Transducin beta chain 3, GNB3