?? ?????????? ????????? ????
CACNA1F
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?????????????
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??????? ????
| CACNA1F
, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2, calcium voltage-gated channel subunit alpha1 F
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????????? ??????
| OMIM:
300110
MGI:
1859639
HomoloGene:
74542
GeneCards:
CACNA1F
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???????
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Entrez
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???????
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?????????
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RefSeq (mRNA)
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RefSeq (???????)
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?????? (UCSC)
| Chr X: 49.21 ? 49.23 Mb
| Chr X: 7.47 ? 7.5 Mb
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??????
PubMed
| [?]
| [?]
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?????????
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????? ??????? ?????? ?? ?????? ??? ??? ??????? ???? ? ??
(
???????
:
Calcium channel, voltage-dependent, L type, alpha 1F subunit
) ?? ?? ???
CACNA1F
?? ?????? ??????? ??
???????
??? ?? ?? ????? ????
??
≪
CACNA1F
≫ ???????? ??????.
[?]
??? ?? ??? ?? ?? ???? ?????? ≪
??????? ?????? ???????? ?????? ?? ???????? ????
??? ?≫ (CSNB2) ?? ?????? ???.
[?]
???? ??????? ?????
[
??????
]
- Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (2006). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels".
Pharmacol. Rev
.
57
(4): 411?25.
doi
:
10.1124/pr.57.4.5
.
PMID
16382099
.
- Koenekoop RK, Lopez I, den Hollander AI, et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions".
Clin. Experiment. Ophthalmol
.
35
(5): 473?85.
doi
:
10.1111/j.1442-9071.2007.01534.x
.
PMID
17651254
.
- Tremblay F, Laroche RG, De Becker I (1995).
"The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness"
.
Vision Res
.
35
(16): 2383?93.
doi
:
10.1016/0042-6989(95)00006-L
.
PMID
7571473
.
- Bergen AA, ten Brink JB, Riemslag F, et al. (1995). "Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region".
Hum. Mol. Genet
.
4
(5): 931?5.
doi
:
10.1093/hmg/4.5.931
.
PMID
7633454
.
- Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags".
Genome Res
.
6
(9): 807?28.
doi
:
10.1101/gr.6.9.807
.
PMID
8889549
.
- Bergen AA, ten Brink JB, Riemslag F, et al. (1997).
"Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1"
.
J. Med. Genet
.
33
(10): 869?72.
doi
:
10.1136/jmg.33.10.869
.
PMC
1050769
.
PMID
8933343
.
- Fisher SE, Ciccodicola A, Tanaka K, et al. (1998). "Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp".
Genomics
.
45
(2): 340?7.
doi
:
10.1006/geno.1997.4941
.
PMID
9344658
.
- Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. (1998). "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness".
Nat. Genet
.
19
(3): 260?3.
doi
:
10.1038/940
.
PMID
9662399
.
- Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. (1998). "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness".
Nat. Genet
.
19
(3): 264?7.
doi
:
10.1038/947
.
PMID
9662400
.
- Naylor MJ, Rancourt DE, Bech-Hansen NT (2000). "Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness".
Genomics
.
66
(3): 324?7.
doi
:
10.1006/geno.2000.6204
.
PMID
10873387
.
- Boycott KM, Pearce WG, Bech-Hansen NT (2000).
"Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F"
.
Can. J. Ophthalmol
.
35
(4): 204?13.
doi
:
10.1016/s0008-4182(00)80031-9
.
PMID
10900517
.
- Boycott KM, Maybaum TA, Naylor MJ, et al. (2001). "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
.
108
(2): 91?7.
doi
:
10.1007/s004390100461
.
PMID
11281458
.
- Wutz K, Sauer C, Zrenner E, et al. (2003). "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina".
Eur. J. Hum. Genet
.
10
(8): 449?56.
doi
:
10.1038/sj.ejhg.5200828
.
PMID
12111638
.
- Weleber RG (2002). "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)".
Ophthalmic Genet
.
23
(2): 71?97.
doi
:
10.1076/opge.23.2.71.2214
.
PMID
12187427
.
- Zito I, Allen LE, Patel RJ, et al. (2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families".
Hum. Mutat
.
21
(2): 169.
doi
:
10.1002/humu.9106
.
PMID
12552565
.
- Jacobi FK, Hamel CP, Arnaud B, et al. (2003).
"A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness"
.
Am. J. Ophthalmol
.
135
(5): 733?6.
doi
:
10.1016/S0002-9394(02)02109-8
.
PMID
12719097
.
- Jalkanen R, Demirci FY, Tyynismaa H, et al. (2003).
"A new genetic locus for X linked progressive cone-rod dystrophy"
.
J. Med. Genet
.
40
(6): 418?23.
doi
:
10.1136/jmg.40.6.418
.
PMC
1735490
.
PMID
12807962
.
- Koschak A, Reimer D, Walter D, et al. (2003). "Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation".
J. Neurosci
.
23
(14): 6041?9.
PMID
12853422
.
- Nakamura M, Ito S, Piao CH, et al. (2003). "Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family".
Arch. Ophthalmol
.
121
(7): 1028?33.
doi
:
10.1001/archopht.121.7.1028
.
PMID
12860808
.
- Kotturi MF, Carlow DA, Lee JC, et al. (2004). "Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes".
J. Biol. Chem
.
278
(47): 46949?60.
doi
:
10.1074/jbc.M309268200
.
PMID
12954628
.
????? ?? ?????
[
??????
]
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???? ?? ??????
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???? ?? ?????
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- α
2
δ-subunits
- β-subunits
- γ-subunits
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