T3DB: Voltage-dependent L-type calcium channel subunit alpha-1F

Name	Voltage-dependent L-type calcium channel subunit alpha-1F
Synonyms	CACNAF1 Voltage-gated calcium channel subunit alpha Cav1.4
Gene Name	CACNA1F
Organism	Human
Amino acid sequence	>lcl\|BSEQ0037197\|Voltage-dependent L-type calcium channel subunit alpha-1F MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
Number of residues	1977
Molecular Weight	220675.9
Theoretical pI	5.96
GO Classification	Functions voltage-gated calcium channel activity metal ion binding high voltage-gated calcium channel activity Processes regulation of T cell receptor signaling pathway T cell homeostasis visual perception dendrite morphogenesis axonogenesis cellular calcium ion homeostasis membrane depolarization during action potential retina development in camera-type eye calcium ion import detection of light stimulus involved in visual perception Components voltage-gated calcium channel complex integral component of membrane
General Function	Voltage-gated calcium channel activity
Specific Function	Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).
Pfam Domain Function	Ion_trans (PF00520 ) Ca_chan_IQ (PF08763 ) GPHH (PF16905 ) CAC1F_C (PF16885 )
Transmembrane Regions	93-111 130-149 162-180 202-220 240-259 348-372 530-549 565-583 592-610 621-639 659-679 734-758 872-890 907-926 939-957 964-983 1003-1022 1113-1133 1191-1209 1225-1244 1252-1273 1291-1310 1330-1349 1417-1441
GenBank Protein ID	3183953
UniProtKB ID	O60840
UniProtKB Entry Name	CAC1F_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0011693\|Voltage-dependent L-type calcium channel subunit alpha-1F (CACNA1F) ATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCA GGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGT GGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTG GCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCT CTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTG ACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCC AACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGC AATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGCTG GAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTC GATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTC CCGAGCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTT GGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCA TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGC GGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATG CTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAA GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCC TTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAG AAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGAC CTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCC GCCGATGACAACCTTGGGCCACAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTG CGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCA GCCAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCT CTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTC CGCCGAGCCAACCGGGTCCTTCGGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGC TACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCAC GGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTG TTCACGGTGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCC TTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTG GAGGTGGGTGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGG ATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCATCCCTGCTCAAT TCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCC CTGCTTGGCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGA AGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAG GACTGGAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGA ATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAAC GTGTTTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGAC AAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAATGAAGGCCTGGTGCCT GGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAG GAGGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAA CTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTC TTCTGCCTCAGCCAAACCAACCCGCTGAGGAAGGGCTGCCACACCCTCATCCACCATCAT GTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAG GACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTC ACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGCCTTCCTGCAC CGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCC CTCATCTCCTTTGGCATCCACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTC CGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAG TGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAA TTTATGTTCGCCTGCATCGGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGAC GAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGAC GTGTCACGGCCCCTGGTCCGGGAGCGGCTCTGGGTCAACAGTGATTTCAACTTTGACAAT GTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTG CTATACAAGGCCATCGATGCATATGCAGAGGACCACGGCCCCATCTATAATTACCGTGTG GAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATC TTCGTGGGCTTCGTCATCATCACTTTCCGTGCCCAGGGCGAGCAGGAGTACCAAAACTGT GAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGC CGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCC TTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCAC TATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGC CTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACT GATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTC ACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCC ATTACCTTCTTTCGCCTCTTCCGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAA GGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCT CTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGATGTTCGGCAAG GTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAG GCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCC AGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAAGAGTTTACC TGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTG ATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGG TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCT GGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCC CCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGACTTGTGGCAATG AACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTC CGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGG ATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCC CCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGAC TATTTCCGCAAATTCCGGCGGAGGAAAGAAAAAGGGCTACTAGGCAACGACGCCGCCCCT AGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATG CGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAG GAGGAAGATGAAAAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCT CGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGGGGACAGACTTCCAGATTCACTC TCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCC CAGGCTGGATCCAACACCCACAGGAGAGGCTCTGGGGCTCTCATTTTCACCATCCCAGAA GAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGGAA GTCCCTGATCGGCTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTT TTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTG CTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAG GGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCC AATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCG CTGTTGTTGGTGGAAGAGGGCGCAGCGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCA CTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAG AGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTT GCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTCGCCTG ACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTC TATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATG GCCTGCGTCCACGCCCTCTGA
GenBank Gene ID	AJ006216
GeneCard ID	Not Available
GenAtlas ID	CACNA1F
HGNC ID	HGNC:1393
Chromosome Location	X
Locus	Xp11.23
References	Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. 9662399 Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM: Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. 9662400 Naylor MJ, Rancourt DE, Bech-Hansen NT: Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Genomics. 2000 Jun 15;66(3):324-7. 10873387 Sinnegger-Brauns MJ, Huber IG, Koschak A, Wild C, Obermair GJ, Einzinger U, Hoda JC, Sartori SB, Striessnig J: Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms. Mol Pharmacol. 2009 Feb;75(2):407-14. doi: 10.1124/mol.108.049981. Epub 2008 Nov 24. 19029287 Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. 15772651 Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M, Craig IW: Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics. 1997 Oct 15;45(2):340-7. 9344658 Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT: A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet. 2001 Feb;108(2):91-7. 11281458 Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM: Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet. 2002 Aug;10(8):449-56. 12111638 Weleber RG: Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. 2002 Jun;23(2):71-97. 12187427 Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA: A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A. 2005 May 24;102(21):7553-8. Epub 2005 May 16. 15897456 Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W: Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23. 16960802 Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT: X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704. Epub 2006 Feb 27. 16505158 Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T: A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. 17525176 Vincent A, Wright T, Day MA, Westall CA, Heon E: A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15. 22194652