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Gene Review

CACNA1F  -  calcium channel, voltage-dependent, L type...

Homo sapiens

Synonyms: AIED, CACNAF1, COD3, COD4, CORDX, ...
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Disease relevance of CACNA1F


High impact information on CACNA1F

  • These two genetic subtypes can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form [6].
  • Mutation analysis of this new alpha1-subunit gene, CACNA1F, in 20 families with incomplete CSNB revealed six different mutations that are all predicted to cause premature protein truncation [7].
  • CACNA1F encodes the alpha (1)-subunit of an L-type Ca(2+) channel (Cav1.4 alpha ), which is specific to photoreceptors and is present at high density in the synaptic terminals [8].
  • The CACNA1F gene encodes the poreforming subunit of the Ca(v)1.4 channel and various mutations in CACNA1F cause X-linked incomplete congenital stationary night blindness (CSNB2) [9].
  • Molecular genetic analyses identified a previously undescribed nucleotide substitution in CACNA1F that is predicted to encode an isoleucine to threonine substitution at CACNA1F residue 745 [9].

Chemical compound and disease context of CACNA1F


Biological context of CACNA1F

  • Here, we report comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany. All families were initially diagnosed as having the incomplete type of CSNB, except for two which have been designated as Aland Island eye disease (AIED)-like [13].
  • Molecular genetic testing by denaturing high performance liquid chromatography (DHPLC), single stranded conformation polymorphism (SSCP) analysis, and direct sequencing of the CACNA1F and NYX genes were performed in the patients possessing a negative Schubert Bornschein ERG [1].
  • The I745T CACNA1F allele produced a remarkable approximately -30-mV shift in the voltage dependence of Ca(v)1.4 channel activation and significantly slower inactivation kinetics in an expression system [9].
  • INTERPRETATION: Although the patients shared a common CACNA1F mutation, there was considerable variability in the clinical expression of the incomplete CSNB phenotype [14].
  • The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution [15].

Anatomical context of CACNA1F

  • CACNA1F encodes the Ca(v)1.4 alpha1 subunit of a voltage-gated calcium channel, which may mediate neurotransmitter release from photoreceptors [16].
  • Genomic DNA was extracted from leukocytes of the peripheral blood, and all 48 exons of the CACNA1F were amplified by polymerase chain reaction and directly sequenced [17].
  • All 3 CSNB patients with evidence for optic nerve fibre mis-routing had X-linked pedigrees: 2 had an identified mutation in the NYX gene but no mutation in either the NYX or CACNA1F genes was identified in the third [18].
  • The comparative antitumour activity of cisplatin, JM8 and JM9 was tested using a panel of different heterotransplanted human testicular tumour cell lines [19].
  • From these data it is concluded that the antitumor activity of cisplatin may be significantly superior to JM8 and JM9, and results of preclinical investigations should be awaited before replacement of cisplatin by JM8 or JM9 in the treatment of nonseminomatous germ cell tumors can be considered [20].

Associations of CACNA1F with chemical compounds

  • Quantitative ultrastructural effects of cisplatin (Platinol), carboplatin (JM8), and iproplatin (JM9) on neurons of freshwater snail Lymnaea stagnalis [21].
  • cis-Diammine-1,1-cyclobutane dicarboxylate platinum(II) (CBDCA, JM8) is a nonnephrotoxic analogue of cisplatin currently undergoing clinical evaluation [22].
  • We compared cisplatin (cis-DDP) and two of its analogues, carboplatin (JM8, CBDCA) and iproplatin (JM9, CHIP) for their ability to retard the growth of multicellular tumour spheroids [23].
  • Carboplatin (JM8) was given at the dose of 230 mg/m2 and mitoxantrone at the dose of 9 mg/m2 every 28 days [24].
  • The blood and urinary clearances of cis-diammine 1,1-cyclobutane dicarboxylate platinum(II) (CBDCA, JM8) were determined in four patients with malignancy [25].

Other interactions of CACNA1F

  • Rod responses were less severely affected in the CACNA1F and RS1 groups and ERGs did not differ significantly between these two groups [26].
  • In the present study, we recruited 142 male schizophrenic patients and their biological mothers from all parts of the United Kingdom to detect a genetic association for the SYP/CACNA1F locus in the Xp11 region and the FACL4 locus in the Xq22.3-Xq23 region [27].
  • X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene [28].

Analytical, diagnostic and therapeutic context of CACNA1F


  1. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Zeitz, C., Minotti, R., Feil, S., Mátyás, G., Cremers, F.P., Hoyng, C.B., Berger, W. Mol. Vis. (2005) [Pubmed]
  2. JM8 (cisplatin analogue) alone for previously untreated advanced ovarian carcinoma. Neijt, J.P., Nortier, J.W., Vendrik, C.P., Struyvenberg, A. Lancet (1983) [Pubmed]
  3. Carboplatin (Paraplatin; JM8) and etoposide (VP-16) as first-line combination therapy for small-cell lung cancer. Smith, I.E., Evans, B.D., Gore, M.E., Vincent, M.D., Repetto, L., Yarnold, J.R., Ford, H.T. J. Clin. Oncol. (1987) [Pubmed]
  4. Advanced seminoma: treatment with cis-platinum-based combination chemotherapy or carboplatin (JM8). Peckham, M.J., Horwich, A., Hendry, W.F. Br. J. Cancer (1985) [Pubmed]
  5. Early clinical studies with cis-diammine-1,1-cyclobutane dicarboxylate platinum II. Calvert, A.H., Harland, S.J., Newell, D.R., Siddik, Z.H., Jones, A.C., McElwain, T.J., Raju, S., Wiltshaw, E., Smith, I.E., Baker, J.M., Peckham, M.J., Harrap, K.R. Cancer Chemother. Pharmacol. (1982) [Pubmed]
  6. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Pusch, C.M., Zeitz, C., Brandau, O., Pesch, K., Achatz, H., Feil, S., Scharfe, C., Maurer, J., Jacobi, F.K., Pinckers, A., Andreasson, S., Hardcastle, A., Wissinger, B., Berger, W., Meindl, A. Nat. Genet. (2000) [Pubmed]
  7. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., Boycott, K.M. Nat. Genet. (1998) [Pubmed]
  8. Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness. Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.X., Schorderet, D.F., Zrenner, E., Munier, F.L., Berger, W. Am. J. Hum. Genet. (2006) [Pubmed]
  9. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Hemara-Wahanui, A., Berjukow, S., Hope, C.I., Dearden, P.K., Wu, S.B., Wilson-Wheeler, J., Sharp, D.M., Lundon-Treweek, P., Clover, G.M., Hoda, J.C., Striessnig, J., Marksteiner, R., Hering, S., Maw, M.A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  10. Carboplatin (JM8) as a single agent and in combination in the treatment of small cell lung cancer. Smith, I.E., Evans, B.D. Cancer Treat. Rev. (1985) [Pubmed]
  11. A pilot study of carboplatin (JM8, CBDCA) and chlorambucil in combination for advanced ovarian cancer. Harding, M., Kennedy, R., Mill, L., MacLean, A., Duncan, I., Kennedy, J., Soukop, M., Kaye, S.B. Br. J. Cancer (1988) [Pubmed]
  12. New combination chemotherapy programme for bladder cancer. Waxman, J., Abel, P., James, N., Farah, N., O'Donoghue, E.P., Mee, D., Colbeck, R., Sikora, K., Williams, G. British journal of urology. (1989) [Pubmed]
  13. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de la Chapelle, A., Weber, B.H., Wissinger, B., Meindl, A., Pusch, C.M. Eur. J. Hum. Genet. (2002) [Pubmed]
  14. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Boycott, K.M., Pearce, W.G., Bech-Hansen, N.T. Can. J. Ophthalmol. (2000) [Pubmed]
  15. The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. McRory, J.E., Hamid, J., Doering, C.J., Garcia, E., Parker, R., Hamming, K., Chen, L., Hildebrand, M., Beedle, A.M., Feldcamp, L., Zamponi, G.W., Snutch, T.P. J. Neurosci. (2004) [Pubmed]
  16. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Hope, C.I., Sharp, D.M., Hemara-Wahanui, A., Sissingh, J.I., Lundon, P., Mitchell, E.A., Maw, M.A., Clover, G.M. Clin. Experiment. Ophthalmol. (2005) [Pubmed]
  17. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Nakamura, M., Ito, S., Terasaki, H., Miyake, Y. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  18. Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? Ung, T., Allen, L.E., Moore, A.T., Trump, D., Yates, J., Bradshaw, K. Documenta ophthalmologica. Advances in ophthalmology. (2005) [Pubmed]
  19. Comparative antitumour activity of cisplatin and two new cisplatin-analogues JM8 and JM9 in human testicular carcinoma xenografts. Harstrick, A., Casper, J., Schmoll, H.J. Int. J. Androl. (1987) [Pubmed]
  20. Comparison of the antitumor activity of cisplatin, carboplatin, and iproplatin against established human testicular cancer cell lines in vivo and in vitro. Harstrick, A., Casper, J., Guba, R., Wilke, H., Poliwoda, H., Schmoll, H.J. Cancer (1989) [Pubmed]
  21. Quantitative ultrastructural effects of cisplatin (Platinol), carboplatin (JM8), and iproplatin (JM9) on neurons of freshwater snail Lymnaea stagnalis. Müller, L.J., Moorer-van Delft, C.M., Roubos, E.W., Vermorken, J.B., Boer, H.H. Cancer Res. (1992) [Pubmed]
  22. Pharmacokinetics of cis-diammine-1,1-cyclobutane dicarboxylate platinum(II) in patients with normal and impaired renal function. Harland, S.J., Newell, D.R., Siddik, Z.H., Chadwick, R., Calvert, A.H., Harrap, K.R. Cancer Res. (1984) [Pubmed]
  23. The relative effectiveness of analogues of cisplatin in the experimental chemotherapy of human non-small-cell lung cancer and neuroblastoma grown as multicellular spheroids. Russell, J., Adam, J., Wheldon, T.E., Kaye, S.B. Cancer Chemother. Pharmacol. (1989) [Pubmed]
  24. Elderly ovarian cancer: treatment with mitoxantrone-carboplatin. Nicoletto, M.O., Artioli, G., Donach, M., Sileni, V.C., Monfardini, S., Talamini, R., Veronesi, A., Ferrazzi, E., Tumolo, S., Visonà, E., Amichetti, M., Endrizzi, L., Salvagno, L., Prosperi, A., Azzoni, P. Gynecol. Oncol. (2001) [Pubmed]
  25. Blood clearance of radioactively labelled cis-diammine 1,1-cyclobutane dicarboxylate platinum (II) (CBDCA) in cancer patients. Sharma, H., Thatcher, N., Baer, J., Zaki, A., Smith, A., McAucliffe, C.A., Crowther, D., Owens, S., Fox, B.W. Cancer Chemother. Pharmacol. (1983) [Pubmed]
  26. A comparison of ERG abnormalities in XLRS and XLCSNB. Bradshaw, K., Allen, L., Trump, D., Hardcastle, A., George, N., Moore, A. Documenta ophthalmologica. Advances in ophthalmology. (2004) [Pubmed]
  27. A further study of a possible locus for schizophrenia on the X chromosome. Wei, J., Hemmings, G.P. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  28. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. Jalkanen, R., Mäntyjärvi, M., Tobias, R., Isosomppi, J., Sankila, E.M., Alitalo, T., Bech-Hansen, N.T. J. Med. Genet. (2006) [Pubmed]
  29. Cell survival in four ovarian carcinoma xenografts following in vitro exposure to melphalan, cisplatin and cis-diammine-1,1-cyclobutane dicarboxylate platinum II (CBDCA,JM8). Jones, A.C., Wilson, P.A., Steel, G.G. Cancer Chemother. Pharmacol. (1984) [Pubmed]
  30. Urinary protein and enzyme excretion in patients receiving chemotherapy with the cis-platinum analogs carboplatin (CBDCA, JM8) and iproplatin (CHIP, JM9). Skillen, A.W., Buamah, P.K., Cantwell, B.M., Cornell, C., Hodson, A.W., Harris, A.L. Cancer Chemother. Pharmacol. (1988) [Pubmed]
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