| Cat. No. | CABT-12707MH |
| Antigen Description | This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). |
| Product Overview | Mouse monoclonal antibody raised against a partial recombinant CACNA1F. |
| Immunogen | CACNA1F (NP_005174, 1878 a.a. ~ 1978 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. |
| Isotype | IgG3 Kappa |
| Application | Western Blot, Sandwich ELISA |
| Storage Buffer | In 1x PBS, pH 7.2 |
| Storage Instruction | Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. |
| Sequence | LHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL* |
| Reactivity | Human |
| Clone | 2I7 |
| Host | Mouse |
| Antigen Gene Information | Gene Name | CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit [Homo sapiens] |
| Official symbol | CACNA1F |
| Synonyms | calcium channel, voltage-dependent, L type, alpha 1F subunit; AIED; CORDX3; CSNB2; CSNB2A; Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinismtype 2); OA2; COD3; COD4; CORDX; CSNBX2; Cav1.4alpha1; Cav1.4; OTTHUMP00000024299; JM8; voltage-dependent L-type calcium channel subunit alpha-1F; JMC8; CACNAF1; Voltage-gated calcium channel subunit alpha Cav1.4; OTTHUMP00000032032; OTTHUMP00000216983; voltage gated calcium channel alpha 1F subunit; Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) |
| GeneId | 778 |
| mRNA Refseq | NM_005183 |
| Protein Refseq | NP_005174 |
| MIM | 300110 |
| Uniprot ID | O60840 |
| Chromosome Location | Xp11.23 |
| Pathway | Alzheimer"s disease, organism-specific biosystem; Alzheimer"s disease, conserved biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem; Axon guidance, organism-specific biosystem; Calcium signaling pathway, organism-specific biosystem |
| Function | protein binding; voltage-gated calcium channel activity; voltage-gated calcium channel activity; voltage-gated ion channel activity |
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