# Illuminating the function of CACNA2D4 in inherited retinal dystrophies

> **NIH NIH R03** · UNIVERSITY OF TEXAS AT AUSTIN · 2024 · $158,750

## Abstract

Project Summary
CACNA2D4 is the gene encoding a2d-4, a subunit of Cav1.4 L-type channels that mediate
neurotransmitter release from photoreceptor synaptic terminals. Variants in CACNA2D4 are
linked to a spectrum of inherited retinal disorders (IRDs) including cone dystrophies and retinitis
pigmentosa. The overall goal of the proposed research to gain insight into the pathophysiological
mechanisms of CACNA2D4-associated IRDs by illuminating the structure/function relationships
of a2d-4. Our central hypothesis is that a2d-4 utilizes distinct molecular determinants to promote
the modulation and presynaptic clustering of Cav1.4 in photoreceptors. We will test this
hypothesis using state-of-the-art techniques in electrophysiology, optical imaging, and in vivo
testing of the structure/function relationships of a2d-4 in mouse photoreceptors. The expected
outcomes of the proposed research will contribute to the Pharos mission by shedding light on the
localization and function of an understudied ion channel protein. The broader impact of this
research is the discovery of mechanisms underlying a2d-4 function that could be targeted in novel
disease-modifying therapies.

## Key facts

- **NIH application ID:** 10896666
- **Project number:** 1R03TR005086-01
- **Recipient organization:** UNIVERSITY OF TEXAS AT AUSTIN
- **Principal Investigator:** AMY LEE
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $158,750
- **Award type:** 1
- **Project period:** 2024-03-21 → 2026-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10896666

## Citation

> US National Institutes of Health, RePORTER application 10896666, Illuminating the function of CACNA2D4 in inherited retinal dystrophies (1R03TR005086-01). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/10896666. Licensed CC0.

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