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The PDE complex has one α, one β, and two γ subunits. Mutations in each subunit can lead to AR-RP. The complex encodes a protein that play an important role in rod phototransduction and maintenance of the intracellular cGMP level by activating cGMP in response to photons. This closes the cGMP-gated ion channels and hyperpolarizes the photoreceptor cells to transduce the signal. PDE6G might be associated with early-onset RP.

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Retinitis Pigmentosa (Non-syndromic)

  • 章节

  • 发表日期：

    2025年

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  • Ahmet Hondur,
  • Stephen Tsang,
  • Tarun Sharma,
  • Vlad Diaconita

摘要

The PDE complex has one α, one β, and two γ subunits. Mutations in each subunit can lead to AR-RP. The complex encodes a protein that play an important role in rod phototransduction and maintenance of the intracellular cGMP level by activating cGMP in response to photons. This closes the cGMP-gated ion channels and hyperpolarizes the photoreceptor cells to transduce the signal. PDE6G might be associated with early-onset RP.