ABCA4
- Known as:
- ABCA4
- Catalog number:
- 000886A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCA4
Related genes to: ABCA4
- Gene:
- ABCA4 NIH gene
- Name:
- ATP binding cassette subfamily A member 4
- Previous symbol:
- STGD1, ABCR, RP19, STGD
- Synonyms:
- FFM, ARMD2, CORD3
- Chromosome:
- 1p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-14
- Date modifiied:
- 2016-10-05
Related products to: ABCA4
Related articles to: ABCA4
- Stargardt disease (STGD1) is the most common inherited macular dystrophy. It is caused by biallelic variants in the ABCA4 gene and leads to impaired retinoid transport within photoreceptors. Disruption of retinoid clearance results in the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which in turn induces oxidative stress, complement activation and progressive degeneration of the RPE and photoreceptors. Despite substantial advances in the understanding of the underlying pathophysiological mechanisms, no approved causal therapy is currently available; however, several promising pharmacological approaches are under preclinical and clinical investigation, targeting different metabolic steps within and around the visual cycle. This review article summarizes the genetic and pathophysiological basis of Stargardt disease and provides an overview of potential lifestyle interventions and emerging pharmacological treatment strategies. These advances could soon translate into disease-modifying therapies, highlighting the importance of early diagnosis and patient referral to specialized centers. - Source: PubMed
Publication date: 2026/09/24
Lipsky TheresaDithmar SophiaAnsari GeorgPeter VirginieBolz Hanno JörnDuncker TobiasFleckenstein MonikaCharbel Issa PeterGerth-Kahlert ChristinaMenghini MorenoRomano FrancescoZobor DittaFeltgen NicolasPfau KristinaPfau Maximilian - Chronic kidney disease (CKD) is a major public health challenge, affecting approximately 674 million people worldwide and representing one of the fastest-growing causes of mortality. Since CKD is frequently asymptomatic in its early stages, the identification of novel genetic biomarkers may improve early detection and risk stratification. Genome-Wide Association Studies (GWAS) have identified numerous genetic loci associated with CKD and related traits; however, their performance is often limited in small and imbalanced cohorts, where reduced statistical power increases both false-positive and false-negative findings. Machine learning (ML) approaches can complement conventional GWAS by prioritizing biologically relevant genetic signals from high-dimensional genomic data. - Source: PubMed
Publication date: 2026/08/31
Dramane DagnogoTreccani MirkoVeschetti LauraKoffi N'Guessan Benedicte SoniaPatuzzo CristinaFerraro Pietro ManuelGambaro GiovanniNoel Dago DougbaMalerba Giovanni - Stargardt disease (STGD) is the most common macular dystrophy, resulting in profound loss of vision. There is no approved treatment. - Source: PubMed
Publication date: 2026/09/03
Kay Christine NSaad LeonideDeBartolomeo GabrielleBressler NeilTsang Stephen HStepien KimberlyBernstein PaulLam Byron LWashington IlyasGorin Michael B - ABCA4 variants are the primary cause of Stargardt disease and also contribute to other inherited retinal disorders. Despite this central role, nearly half of all ABCA4 missense variants remain classified as variants of uncertain significance (VUS), limiting genetic diagnosis for many patients. The extracytoplasmic domain 2 (ECD2) harbors a disproportionate share of these unresolved variants yet remains poorly characterized. - Source: PubMed
Publication date: 2026/08/25
Jones Jazzlyn SBodt BarryBiswas Subhasis BBiswas-Fiss Esther E - To describe the genetic resolution rate, molecular findings, and genotype-phenotype correlations of non- and non- inherited macular dystrophies (IMDs) within an Irish inherited retinal disease (IRD) registry. - Source: PubMed
Publication date: 2026/08/20
Harford DeirdreConway MarcusMoran BridgetZhu JuliaTurner JacquelineDockery AdrianO'Byrne James JFlitcroft D IanBurke TomásStephenson Kirk A JFarrar G JaneKeegan David J