GNAT1 encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade [2]. It is mainly involved in vision-related processes, especially in dark-adapted (scotopic) vision. Mutations in GNAT1 can lead to various retinal disorders, highlighting its importance in maintaining normal retinal function. Genetic models, such as knockout mice, are valuable for studying its functions.

In a consanguineous Pakistani family, a missense mutation in GNAT1 (p.D129G) was identified, associated with autosomal recessive stationary night blindness [1]. A novel homozygous truncating mutation in GNAT1 was found in a patient with retinitis pigmentosa, suggesting that some GNAT1 variants can cause recessive, late-onset retinal degeneration [2]. In Gnat1-/-mice, constitutively depolarized rods release excessive glutamate, accelerating deep plexus angiogenesis and paracellular blood-retinal barrier maturation, indicating its role in regulating these retinal processes [3]. Also, in Gnat1-/-; Gnat2cpfl3/cpfl3 mice (global knockouts for rod and cone α-transducin proteins), robust light responses related to melanopsin-mediated signal were observed, showing melanopsin-mediated phototransduction can contribute to the primary pattern-forming visual pathway [4].

In conclusion, GNAT1 is crucial for normal rod-mediated phototransduction and maintaining retinal function. Studies using gene knockout mouse models have revealed its role in various retinal-related biological processes and diseases, including congenital stationary night blindness and retinitis pigmentosa. Understanding GNAT1 functions helps in comprehending the mechanisms underlying retinal disorders and may provide insights for potential therapeutic strategies.