ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene. [5] [6] [7] ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A …

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 an importer flippase protein that prevents the build-up of vitamin A …

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 Degeneration, Age-Related, 2. Among its related pathways are Diseases associated with visual transduction and Olfactory Signaling Pathway.

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 is produced in the retina's light-sensing cells (photoreceptors).

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 mutations in a gene called ABCA4. This gene makes a protein that clears byproducts of vitamin A from inside photoreceptors.

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, leading to the buildup of toxic byproducts in the retina.

The ABCA4 gene produces an ATP-binding cassette (ABC) superfamily transmembrane protein expressed exclusively in retinal photoreceptors that is involved in clearance from photoreceptor cells of all-trans-retinal aldehyde (atRAL), a byproduct of the retinoid cycle of vision (Sun et al., 1999; Cideciyan et al., 2009).

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-associated disease, rendering this retinopathy a model for missing heritability in autosomal recessive disorders.

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-sensitive tissue at the back of the eye.

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 retinitis pigmentosa.