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Gene Review

ACHM1  -  achromatopsia (rod monochromacy) 1

Homo sapiens

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Disease relevance of ACHM1

 

High impact information on ACHM1

 

Biological context of ACHM1

 

Anatomical context of ACHM1

  • Total colour blindness (achromatopsia or rod monochromacy) is a rare autosomal recessive trait caused by mutations in genes encoding the proteins of the photoreceptor cation channel or cone transducin that are essential for function of all classes of cone [7].
 

Associations of ACHM1 with chemical compounds

 

Other interactions of ACHM1

  • These data indicate that the CNGA3 gene maps within the critical interval of the ACHM2 locus for rod monochromacy and thus is a candidate gene for this disease [9].

References

  1. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Pentao, L., Lewis, R.A., Ledbetter, D.H., Patel, P.I., Lupski, J.R. Am. J. Hum. Genet. (1992) [Pubmed]
  2. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., Wissinger, B. Nat. Genet. (1998) [Pubmed]
  3. Eye movement abnormalities in rod monochromacy. Yee, R.D., Baloh, R.W., Honrubia, V. Ophthalmology (1981) [Pubmed]
  4. Use of modified X-Chrom for relief of light dazzlement and color blindness of a rod monochromat. Zeltzer, H.I. Journal of the American Optometric Association. (1979) [Pubmed]
  5. Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Okada, A., Ueyama, H., Toyoda, F., Oda, S., Ding, W.G., Tanabe, S., Yamade, S., Matsuura, H., Ohkubo, I., Kani, K. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  6. Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. Schiefer, U., Kurtenbach, A., Braun, E., Kraus, W., Zrenner, E. German journal of ophthalmology. (1995) [Pubmed]
  7. Molecular genetics of colour vision deficiencies. Deeb, S.S. Clinical & experimental optometry : journal of the Australian Optometrical Association. (2004) [Pubmed]
  8. Effects of amphotericin B with combination chemotherapy on response rates and on survival in non-small cell carcinoma of the lung. Presant, C.A., Metter, G.E., Multhauf, P., Bertrand, M., Chang, F.F., Klein, L., Rappaport, D., Kendregan, B., Mackie, A. Cancer treatment reports. (1984) [Pubmed]
  9. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Wissinger, B., Jägle, H., Kohl, S., Broghammer, M., Baumann, B., Hanna, D.B., Hedels, C., Apfelstedt-Sylla, E., Randazzo, G., Jacobson, S.G., Zrenner, E., Sharpe, L.T. Genomics (1998) [Pubmed]
 
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