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Gene Review

ABCA4  -  ATP-binding cassette, sub-family A (ABC1),...

Homo sapiens

Synonyms: ABC10, ABCR, ARMD2, ATP-binding cassette sub-family A member 4, CORD3, ...
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Disease relevance of ABCA4


Psychiatry related information on ABCA4

  • These findings imply that the FFM deficits are not caused by impairment of basic visual motion or form perception but are the consequence of damage to a parietal brain structure involved in the combined analysis of visual motion and form information [6].
  • The simple model was described by V(O2) peak = M(b) (or FFM(b)) exp(c SR-PA) exp(a + d age) epsilon (where M is body mass in kg; FFM is fat-free mass in kg; SR-PA is self-reported physical activity; epsilon is a multiplicative error term; and exp indicates natural antilogarithms) [7].
  • The NEO-FFI is a brief personality inventory measuring each of the key dimensions of the five-factor model of personality (FFMP), a comprehensive, empirically-derived model of personality structure [8].
  • Children with eating disorders of normal weight, such as bulimia nervosa and selective eating, did not differ significantly from reference children in their relative FM and FFM [9].
  • The Chinese FFM and MFM are valid and reliable measures of family and marital functioning in Chinese-speaking SLE patients, with psychometric properties very similar to the source English version [10].

High impact information on ABCA4


Chemical compound and disease context of ABCA4


Biological context of ABCA4

  • The missense mutations were analyzed functionally in the photoreceptors of Xenopus laevis tadpoles, which revealed mislocalization of ABCA4 protein [18].
  • Overall, there were 2480 instances of 213 different variants in the ABCA4 gene, including 589 instances of 97 amino acid substitutions, and 45 instances of 33 truncating variants [19].
  • No evidence was found of significantly different allele frequencies of ABCA4 sequence variants in patients compared with control subjects, and no evidence for association or cosegregation with disease in family-based analyses [2].
  • Haplotype analysis in 16 families segregating the 2588G>C mutation showed four intragenic polymorphisms invariably present in all 16 disease chromosomes and sharing of the same allele for several markers flanking the ABCA4 locus in most of the disease chromosomes [20].
  • Here we describe ABCA4-associated phenotypes, including a proband with a homozygous nonsense mutation in a family from Southern Italy [21].

Anatomical context of ABCA4


Associations of ABCA4 with chemical compounds

  • Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence [24].
  • Chimeric transporters, generated by substituting the C termini of either ABCA4 or ABCA7 for the endogenous terminus, demonstrated that ABCA1 could stimulate cholesterol efflux without its PDZ-binding motif but not without the VFVNFA motif [25].
  • Moreover, the transporter ABCA4 (ABCR) plays a pivotal role in retinaldehyde processing, and ABCA3 has recently implicated in lung surfactant processing [26].
  • We have previously described a general ribonucleotidase activity of the first nucleotide binding domain (NBD1) of human ABCR (Biswas, E. E. (2001) Biochemistry 40, 8181-8187) [27].
  • Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy [28].

Other interactions of ABCA4

  • In particular, the expression of ABCA4 and ABCC3 was increased by 132- and 459-fold, respectively, whereas ABCG2 was increased by approximately 3000-fold [29].
  • The nucleotide diversity of the ABCA4 coding region, a collective measure of the number and prevalence of polymorphic sites in a region of DNA, was found to be 1.28, a value that is 9 to 400 times greater than that of two other macular disease genes that were examined in a similar fashion (VMD2 and EFEMP1) [19].
  • Here, we identify a new kindred with dominant STGD and demonstrate genetic linkage to the STGD3 locus [30].
  • The expanding roles of ABCA4 and CRB1 in inherited blindness [31].
  • No disease causative mutations have been identified in MYOC or ABCA4 [32].

Analytical, diagnostic and therapeutic context of ABCA4

  • A combination of denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequencing was used to detect ABCA4 sequence variants [2].
  • Furthermore, ABCA4 protein was also detected in the isolated rat choroid plexus at about 250 kDa by western blot analysis, and its apparent molecular size was reduced by N-glycosidase F treatment [23].
  • METHODS: Two pairs of siblings with STGD1, for whom diagnosis had been confirmed by genetic linkage to the ABCA4 gene region, were examined regarding visual acuity, kinetic perimetry, fundus photography, full-field ERG and multifocal ERG (MERG) [33].
  • Animal models created by removing the normal genes, similar to what was performed with ABCA4, can assist in the development of therapeutic interventions [34].
  • Using trypsin digestion, site-directed mutagenesis, concanavalin A binding, and endoglycosidase digestion, we show that ABCR contains eight glycosylation sites [35].


  1. Biochemical defects in ABCR protein variants associated with human retinopathies. Sun, H., Smallwood, P.M., Nathans, J. Nat. Genet. (2000) [Pubmed]
  2. Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Schmidt, S., Postel, E.A., Agarwal, A., Allen, I.C., Walters, S.N., De la Paz, M.A., Scott, W.K., Haines, J.L., Pericak-Vance, M.A., Gilbert, J.R. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  3. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Guymer, R.H., Héon, E., Lotery, A.J., Munier, F.L., Schorderet, D.F., Baird, P.N., McNeil, R.J., Haines, H., Sheffield, V.C., Stone, E.M. Arch. Ophthalmol. (2001) [Pubmed]
  4. Cellular mechanisms of retinal degenerations: RPE65, ABCA4, RDS, and bicarbonate transporter genes as examples. Bok, D. Retina (Philadelphia, Pa.) (2005) [Pubmed]
  5. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Annilo, T., Shulenin, S., Chen, Z.Q., Arnould, I., Prades, C., Lemoine, C., Maintoux-Larois, C., Devaud, C., Dean, M., Denèfle, P., Rosier, M. Cytogenet. Genome Res. (2002) [Pubmed]
  6. Visual motion perception after brain damage: II. Deficits in form-from-motion perception. Schenk, T., Zihl, J. Neuropsychologia. (1997) [Pubmed]
  7. Modeling the influence of body size on V(O2) peak: effects of model choice and body composition. Batterham, A.M., Vanderburgh, P.M., Mahar, M.T., Jackson, A.S. J. Appl. Physiol. (1999) [Pubmed]
  8. Family history of alcoholism, alcohol use disorders and the five-factor model of personality. Martin, E.D., Sher, K.J. J. Stud. Alcohol (1994) [Pubmed]
  9. Body composition in early onset eating disorders. Nicholls, D., Wells, J.C., Singhal, A., Stanhope, R. European journal of clinical nutrition. (2002) [Pubmed]
  10. Validation of a Chinese version of the Medical Outcomes Study Family and Marital Functioning Measures in patients with SLE. Thumboo, J., Feng, P.H., Soh, C.H., Boey, M.L., Thio, S., Fong, K.Y. Lupus (2000) [Pubmed]
  11. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Molday, L.L., Rabin, A.R., Molday, R.S. Nat. Genet. (2000) [Pubmed]
  12. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Weng, J., Mata, N.L., Azarian, S.M., Tzekov, R.T., Birch, D.G., Travis, G.H. Cell (1999) [Pubmed]
  13. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Martínez-Mir, A., Paloma, E., Allikmets, R., Ayuso, C., del Rio, T., Dean, M., Vilageliu, L., Gonzàlez-Duarte, R., Balcells, S. Nat. Genet. (1998) [Pubmed]
  14. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Shroyer, N.F., Lewis, R.A., Lupski, J.R. Am. J. Ophthalmol. (2001) [Pubmed]
  15. Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degeneration. Shastry, B.S. Int. J. Mol. Med. (2004) [Pubmed]
  16. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement. Gravholt, C.H., Naeraa, R.W., Nyholm, B., Gerdes, L.U., Christiansen, E., Schmitz, O., Christiansen, J.S. Diabetes Care (1998) [Pubmed]
  17. The effect of sibutramine on resting energy expenditure and adrenaline-induced thermogenesis in obese females. Walsh, K.M., Leen, E., Lean, M.E. Int. J. Obes. Relat. Metab. Disord. (1999) [Pubmed]
  18. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Wiszniewski, W., Zaremba, C.M., Yatsenko, A.N., Jamrich, M., Wensel, T.G., Lewis, R.A., Lupski, J.R. Hum. Mol. Genet. (2005) [Pubmed]
  19. An analysis of allelic variation in the ABCA4 gene. Webster, A.R., Héon, E., Lotery, A.J., Vandenburgh, K., Casavant, T.L., Oh, K.T., Beck, G., Fishman, G.A., Lam, B.L., Levin, A., Heckenlively, J.R., Jacobson, S.G., Weleber, R.G., Sheffield, V.C., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  20. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet, J.M., Tammur, J., Testa, F., Balcells, S., Bird, A.C., Brunner, H.G., Hoyng, C.B., Metspalu, A., Simonelli, F., Allikmets, R., Bhattacharya, S.S., D'Urso, M., Gonzàlez-Duarte, R., Kaplan, J., te Meerman, G.J., Santos, R., Schwartz, M., Van Camp, G., Wadelius, C., Weber, B.H., Cremers, F.P. Eur. J. Hum. Genet. (2002) [Pubmed]
  21. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. Simonelli, F., Testa, F., Zernant, J., Nesti, A., Rossi, S., Rinaldi, E., Allikmets, R. Ophthalmic Res. (2004) [Pubmed]
  22. Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels. Kim, W.S., Fitzgerald, M.L., Kang, K., Okuhira, K., Bell, S.A., Manning, J.J., Koehn, S.L., Lu, N., Moore, K.J., Freeman, M.W. J. Biol. Chem. (2005) [Pubmed]
  23. Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain. Bhongsatiern, J., Ohtsuki, S., Tachikawa, M., Hori, S., Terasaki, T. J. Neurochem. (2005) [Pubmed]
  24. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Cideciyan, A.V., Aleman, T.S., Swider, M., Schwartz, S.B., Steinberg, J.D., Brucker, A.J., Maguire, A.M., Bennett, J., Stone, E.M., Jacobson, S.G. Hum. Mol. Genet. (2004) [Pubmed]
  25. ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities. Fitzgerald, M.L., Okuhira, K., Short, G.F., Manning, J.J., Bell, S.A., Freeman, M.W. J. Biol. Chem. (2004) [Pubmed]
  26. ABCA2: a candidate regulator of neural transmembrane lipid transport. Schmitz, G., Kaminski, W.E. Cell. Mol. Life Sci. (2002) [Pubmed]
  27. Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. Suárez, T., Biswas, S.B., Biswas, E.E. J. Biol. Chem. (2002) [Pubmed]
  28. Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy. Singh, H.P., Jalali, S., Hejtmancik, J.F., Kannabiran, C. Am. J. Ophthalmol. (2006) [Pubmed]
  29. Expression profiling of ABC transporters in a drug-resistant breast cancer cell line using AmpArray. Liu, Y., Peng, H., Zhang, J.T. Mol. Pharmacol. (2005) [Pubmed]
  30. The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Zhang, K., Kniazeva, M., Hutchinson, A., Han, M., Dean, M., Allikmets, R. Genomics (1999) [Pubmed]
  31. The expanding roles of ABCA4 and CRB1 in inherited blindness. Cremers, F.P., Maugeri, A., den Hollander, A.I., Hoyng, C.B. Novartis Found. Symp. (2004) [Pubmed]
  32. Differential occurrence of mutations causative of eye diseases in the Chinese population. Pang, C.P., Lam, D.S. Hum. Mutat. (2002) [Pubmed]
  33. Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). Eksandh, L., Ekström, U., Abrahamson, M., Bauer, B., Andréasson, S. Acta ophthalmologica Scandinavica. (2001) [Pubmed]
  34. Genetics update of macular diseases. Chung, M., Lotery, A.J. Ophthalmology clinics of North America. (2002) [Pubmed]
  35. Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. Bungert, S., Molday, L.L., Molday, R.S. J. Biol. Chem. (2001) [Pubmed]
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