Anti-CACNA1H Antibody (CAB10697)
- SKU:
- CAB10697
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
Frequently bought together:
Description
| 抗体名: | Anti-CACNA1H Antibody |
| 抗体コード: | CAB10697 |
| 抗体サイズ: | 20uL, 50 uL |
| 申し込み: | WB |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 260-360 of human CACNA1H (NP_066921.2). |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human |
| ポジティブサンプル: |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 260-360 of human CACNA1H (NP_066921.2). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | CFLD SAFV RNNN LTFL RPYY QTEE GEEN PFIC SSRR DNGM QKCS HIPG RREL RMPC TLGW EAYT QPQA EGVG AARN ACIN WNQY YNVC RSGD SNPH NGAI N |
| 遺伝子ID: | 8912 |
| Uniprot: | O95180 |
| セルラーロケーション: | Membrane, Multi-pass membrane protein |
| 計算された分子量: | 258kDa/259kDa |
| 観察された分子量: | Refer to figures |
| 同義語: | CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, HALD4 |
| バックグラウンド: | This gene encodes a T-type 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, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). |
| UniProt Protein Function: | CACNA1H: 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-1H gives rise to T-type calcium currents. T-type calcium channels belong to the low-voltage activated (LVA) group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Defects in CACNA1H are a cause of susceptibility to epilepsy, idiopathic generalized type 6 (EIG6). A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. EIG6 is a polygenic and multifactorial disease. Defects in CACNA1H are a cause of susceptibility to epilepsy, childhood absence type 6 (ECA6). A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Cell development/differentiation; Channel, calcium; Membrane protein, multi-pass; Membrane protein, integral Chromosomal Location of Human Ortholog: 16p13.3 Cellular Component: plasma membrane; integral to membrane; voltage-gated calcium channel complex; caveola; sarcolemma Molecular Function:low voltage-gated calcium channel activity; metal ion binding Biological Process: axon guidance; regulation of membrane potential; muscle development; muscle contraction; transport; aldosterone biosynthetic process; myoblast fusion; regulation of heart contraction; cellular response to hormone stimulus Disease: Epilepsy, Childhood Absence, Susceptibility To, 6 |
| NCBI Summary: | This gene encodes a T-type 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, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] |
| UniProt Code: | O95180 |
| NCBI GenInfo Identifier: | 53832011 |
| NCBI Gene ID: | 8912 |
| NCBI Accession: | NP_001005407.1 |
| UniProt Related Accession: | O95180 |
| Molecular Weight: | ~ 315kDa |
| NCBI Full Name: | voltage-dependent T-type calcium channel subunit alpha-1H isoform b |
| NCBI Synonym Full Names: | calcium voltage-gated channel subunit alpha1 H |
| NCBI Official Symbol: | CACNA1H |
| NCBI Official Synonym Symbols: | ECA6; EIG6; HALD4; Cav3.2; CACNA1HB |
| NCBI Protein Information: | voltage-dependent T-type calcium channel subunit alpha-1H |
| UniProt Protein Name: | Voltage-dependent T-type calcium channel subunit alpha-1H |
| UniProt Synonym Protein Names: | Low-voltage-activated calcium channel alpha1 3.2 subunit; Voltage-gated calcium channel subunit alpha Cav3.2 |
| UniProt Gene Name: | CACNA1H |
| UniProt Entry Name: | CAC1H_HUMAN |