Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …

2024年12月24日 · ABCA4 (ATP Binding Cassette Subfamily A Member 4) is a Protein Coding gene. Diseases associated with ABCA4 include Stargardt Disease 1 and Macular …

The ABCA4 gene provides instructions for making a protein that is found in the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, the ABCA4 protein …

2024年12月16日 · ABCA4 Retinopathy or Stargardt disease is rare genetic disorder that affects the retina — the tissue at the back of the eye that senses light. Stargardt is caused by …

2025年1月2日 · ABCA4 Retinopathy is a genetic eye disorder that affects the retina and can lead to vision loss. Mutations in the ABCA4 gene are the primary cause of ABCA4 Retinopathy, …

The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing cells (photoreceptors) in the retina. The ABCA4 protein transports potentially toxic …

The ABCA4 gene produces an ATP-binding cassette (ABC) superfamily transmembrane protein expressed exclusively in retinal photoreceptors that is involved in clearance from …

2025年1月2日 · The ABCA4 gene disease, often referred to as Stargardt disease or ABCA4-related retinal dystrophy, is a genetic condition that primarily affects the retina, the light …

2025年2月8日 · Noncoding pathogenic variants, novel structural variants, and a common hypomorphic allele of the ABCA4 gene explain the majority of unsolved cases with ABCA4 …

ABCA4 gene associated retinal dystrophies (ABCA4-RD) are a group of inherited eye diseases caused by ABCA4 gene mutations, including Stargardt disease, cone-rod dystrophy and …