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 (ABC1) found exclusively in multicellular eukaryotes.[5] The gene was first cloned and characterized in 1997 as a gene that causes Stargardt disease, an autosomal recessive disease that causes macular degeneration.[8] The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). The ABCA4 protein is almost exclusively expressed in retina localizing in outer segment disk edges of rod photoreceptors.[9]
^ abcGRCh38: Ensembl release 89: ENSG00000198691 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028125 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"Entrez Gene: ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4".
^Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (March 1997). "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy". Nature Genetics. 15 (3): 236–46. doi:10.1038/ng0397-236. PMID 9054934. S2CID 31677978.
^Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH (January 1998). "Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease". Human Genetics. 102 (1): 21–6. doi:10.1007/s004390050649. PMID 9490294. S2CID 22070963.
^Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (September 1997). "Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration". Science. 277 (5333): 1805–7. doi:10.1126/science.277.5333.1805. PMID 9295268.
^Sun H, Nathans J (2000). "ABCR: Rod photoreceptor-specific ABC transporter responsible for Stargardt disease". Vertebrate Phototransduction and the Visual Cycle, Part A. Methods in Enzymology. Vol. 315. pp. 879–97. doi:10.1016/S0076-6879(00)15888-4. ISBN 978-0-12-182216-3. PMID 10736747.
A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette...
recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking...
rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole...
ABCA4 gene lacked functional or expression data to support it as the etiologic gene for nonsyndromic cleft lip/palate even though SNPs in the ABCA4 gene...
related syndromes: TMEM216 cleft lip with and without cleft palate: MAFB and ABCA4 Schinzel–Giedion syndrome: SETBP1 Fanconi anemia and related disorders:...
that map to six different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ABCA7, ABCA12, and ABCA13. The other subgroup consists of ABCA5 and ABCA6...
leave the opsin protein prior to its replacement, when it is bound to the ABCA4 protein (also known as ABCR). At this stage, it is also transformed to all-trans-retinol...
#601691), can involve a mutation in the ATP-binding cassette transporter 4 (ABCA4) gene. This gene contains 50 exons with a coding region spanning 6.7 kb...
because of two mutations arising simultaneously, one in RP1L1 and another in ABCA4. OMD is generally believed to be autosomal dominant, meaning that if you...
ABCR can refer to : Akron Barberton Cluster Railway The ABCA4/ABCR gene implicated in some age-related macular degeneration This disambiguation page lists...
craniofacial clefting include FGFRs, TWIST, MSXs, GREM1, TCOF1, PAXs, MAFB, ABCA4, and WNT allowing great cause for more research into the genetic basis for...
like Stargardt's disease and macular degeneration. An animal study using ABCA4 knockout mouse proved that reduction in serum RBP4 level could inhibit lipofuscin...
lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nat. Genet. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469...
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