Member 4 Subfamily A ATP Binding Cassette Transporter

An ATP binding cassette sub-family A transporter that translocates 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (RETINOIDS) from the extracellular surface to the cytoplasmic membrane surface of RETINAL ROD CELLS and RETINAL CONE CELLS. Mutations in the ABCA4 gene are associated with Stargardt Disease 1, a hereditary juvenile form of MACULAR DEGENERATION.

Also Known As:

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Bok, Dean: 3 articles (10/2020 - 05/2011)
2.	Radu, Roxana A: 3 articles (10/2020 - 05/2011)
3.	Hu, Jane: 2 articles (10/2020 - 05/2011)
4.	Blackwell, Jenefer M: 2 articles (03/2009 - 06/2008)
5.	Gilbert, Ruth E: 2 articles (03/2009 - 06/2008)
6.	Jamieson, Sarra E: 2 articles (03/2009 - 06/2008)
7.	McLeod, Rima: 2 articles (03/2009 - 06/2008)
8.	Petersen, Eskild: 2 articles (03/2009 - 06/2008)
9.	Bonilha, Vera L: 1 article (10/2020)
10.	DeBenedictis, Meghan J: 1 article (10/2020)

Related Diseases

1.	Stargardt Disease 11/01/2017 - "Recessive Stargardt macular degeneration (STGD1) is caused by mutations in the gene for the ABCA4 transporter in photoreceptor outer segments. " 01/01/2012 - "To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. " 10/01/2020 - "Stargardt macular degeneration (STGD) is a central blinding disease caused by loss of or dysfunctional ABCA4 transporter in both photoreceptors and retinal pigment epithelial (RPE) cells. " 01/01/2017 - "In connection with this suggestion, the Abca4 transporter protein, an outer segment protein defects in which result in recessive Stargardt disease, has been proposed to promote the removal of all-trans retinal by facilitating its availability for reduction. "
2.	Congenital Toxoplasmosis 03/01/2009 - "Using mother-child pairs from Europe (EMSCOT) and child/parent trios from North America (NCCCTS), we demonstrated that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4 previously associated with juvenile onset retinal dystrophies including Stargardt's disease. " 06/04/2008 - "In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. "
3.	Retinal Diseases 10/01/2017 - "A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases." 07/01/2003 - "Sequence variants in a gene coding for a retina-specific ATP-binding cassette (ABCA4) transporter protein, which is responsible for a phenotypically similar Mendelian form of retinal disease, were proposed to increase the risk of ARM. "
4.	Brain Diseases (Brain Disorder) 03/01/2009 - "Using mother-child pairs from Europe (EMSCOT) and child/parent trios from North America (NCCCTS), we demonstrated that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4 previously associated with juvenile onset retinal dystrophies including Stargardt's disease. " 06/04/2008 - "In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. "
5.	Retinal Dystrophies 03/01/2009 - "Using mother-child pairs from Europe (EMSCOT) and child/parent trios from North America (NCCCTS), we demonstrated that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4 previously associated with juvenile onset retinal dystrophies including Stargardt's disease. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Collagen Type II (Type II Collagen)
3.	Vitamin A (Retinol)
4.	Retinaldehyde (Retinal)
5.	Retinal Pigments (Pigments, Visual)
6.	Lipofuscin
7.	Adenosine Triphosphate (ATP)