CACNA1H

CACNA1H

Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a human gene.cite web | title = Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912| accessdate = ]

PBB_Summary
section_title =
summary_text = 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).cite web | title = Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912| accessdate = ]

ee also

* T-type calcium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Crunelli V, Tóth TI, Cope DW, "et al." |title=The 'window' T-type calcium current in brain dynamics of different behavioural states. |journal=J. Physiol. (Lond.) |volume=562 |issue= Pt 1 |pages= 121–9 |year= 2005 |pmid= 15498803 |doi= 10.1113/jphysiol.2004.076273
*cite journal | author=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411–25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=
*cite journal | author=Cribbs LL, Lee JH, Yang J, "et al." |title=Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. |journal=Circ. Res. |volume=83 |issue= 1 |pages= 103–9 |year= 1998 |pmid= 9670923 |doi=
*cite journal | author=Williams ME, Washburn MS, Hans M, "et al." |title=Structure and functional characterization of a novel human low-voltage activated calcium channel. |journal=J. Neurochem. |volume=72 |issue= 2 |pages= 791–9 |year= 1999 |pmid= 9930755 |doi=
*cite journal | author=Perez-Reyes E, Lee JH, Cribbs LL |title=Molecular characterization of two members of the T-type calcium channel family. |journal=Ann. N. Y. Acad. Sci. |volume=868 |issue= |pages= 131–43 |year= 1999 |pmid= 10414291 |doi=
*cite journal | author=Bijlenga P, Liu JH, Espinos E, "et al." |title=T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 13 |pages= 7627–32 |year= 2000 |pmid= 10861024 |doi=
*cite journal | author=Daniels RJ, Peden JF, Lloyd C, "et al." |title=Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 339–52 |year= 2001 |pmid= 11157797 |doi=
*cite journal | author=Jagannathan S, Punt EL, Gu Y, "et al." |title=Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms. |journal=J. Biol. Chem. |volume=277 |issue= 10 |pages= 8449–56 |year= 2002 |pmid= 11751928 |doi= 10.1074/jbc.M105345200
*cite journal | author=Mariot P, Vanoverberghe K, Lalevee N, "et al." |title=Overexpression of an alpha 1H (Cav3.2) T-type calcium channel during neuroendocrine differentiation of human prostate cancer cells. |journal=J. Biol. Chem. |volume=277 |issue= 13 |pages= 10824–33 |year= 2002 |pmid= 11799114 |doi= 10.1074/jbc.M108754200
*cite journal | author=Chemin J, Monteil A, Perez-Reyes E, "et al." |title=Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. |journal=J. Physiol. (Lond.) |volume=540 |issue= Pt 1 |pages= 3–14 |year= 2002 |pmid= 11927664 |doi=
*cite journal | author=Shin JB, Martinez-Salgado C, Heppenstall PA, Lewin GR |title=A T-type calcium channel required for normal function of a mammalian mechanoreceptor. |journal=Nat. Neurosci. |volume=6 |issue= 7 |pages= 724–30 |year= 2003 |pmid= 12808460 |doi= 10.1038/nn1076
*cite journal | author=Wolfe JT, Wang H, Howard J, "et al." |title=T-type calcium channel regulation by specific G-protein betagamma subunits. |journal=Nature |volume=424 |issue= 6945 |pages= 209–13 |year= 2003 |pmid= 12853961 |doi= 10.1038/nature01772
*cite journal | author=Kaku T, Lee TS, Arita M, "et al." |title=The gating and conductance properties of Cav3.2 low-voltage-activated T-type calcium channels. |journal=Jpn. J. Physiol. |volume=53 |issue= 3 |pages= 165–72 |year= 2004 |pmid= 14529577 |doi=
*cite journal | author=Welsby PJ, Wang H, Wolfe JT, "et al." |title=A mechanism for the direct regulation of T-type calcium channels by Ca2+/calmodulin-dependent kinase II. |journal=J. Neurosci. |volume=23 |issue= 31 |pages= 10116–21 |year= 2003 |pmid= 14602827 |doi=
*cite journal | author=Chen CC, Lamping KG, Nuno DW, "et al." |title=Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels. |journal=Science |volume=302 |issue= 5649 |pages= 1416–8 |year= 2003 |pmid= 14631046 |doi= 10.1126/science.1089268
*cite journal | author=Khosravani H, Altier C, Simms B, "et al." |title=Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. |journal=J. Biol. Chem. |volume=279 |issue= 11 |pages= 9681–4 |year= 2004 |pmid= 14729682 |doi= 10.1074/jbc.C400006200
*cite journal | author=Martin J, Han C, Gordon LA, "et al." |title=The sequence and analysis of duplication-rich human chromosome 16. |journal=Nature |volume=432 |issue= 7020 |pages= 988–94 |year= 2005 |pmid= 15616553 |doi= 10.1038/nature03187

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Нужно решить контрольную?

Look at other dictionaries:

  • Childhood absence epilepsy — (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children. The age of onset is between 4–10 years with peak age between 5–7 years. Children have absence seizures which although brief ( 4–20… …   Wikipedia

  • Кальциевый канал — Кальциевые каналы  это тип ионных каналов, избирательно проницаемых для ионов кальция Ca2+. Часто данный термин синонимичен потенциалуправляемым кальциевым каналам, хотя также существуют и лигандуправляемые кальциевые каналы.[1] Например,… …   Википедия

  • Voltage-dependent calcium channel — Voltage dependent calcium channels (VDCC) are a group of voltage gated ion channels found in excitable cells (e.g., muscle, glial cells, neurons, etc.) with a permeability to the ion Ca2+.[1][2] These channels are slightly permeable to sodium… …   Wikipedia

  • Idiopathic generalized epilepsy — (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no anatomical brain abnormalities. Patients also often have a family history …   Wikipedia

  • T-type calcium channel — protein Name=calcium channel, voltage dependent, T type, alpha 1G subunit caption= width= HGNCid=1394 Symbol=CACNA1G AltSymbols=Cav3.1 EntrezGene=8913 OMIM=604065 RefSeq=NM 018896 UniProt=O43497 PDB= ECnumber= Chromosome=17 Arm=q Band=22… …   Wikipedia

  • Ion channel family — Pfam box Symbol = Ion trans Name = Ion channel (eukariotic) width =250 caption =Potassium channel KvAP, structure in a membrane like environment. Calculated hydrocarbon boundaries of the lipid bilayer are indicated by red and blue dots. Pfam=… …   Wikipedia

  • Courant Calcique De Type T — Le courant calcique de type T est un courant transitoire rapidement inactivé et à faible seuil d activation. Il est en particulier impliqué dans la génération de rythme, dans le cœur, mais aussi dans le thalamus. Ses caractéristiques sont telles… …   Wikipédia en Français

  • Courant calcique de type T — Le courant calcique de type T est un courant transitoire rapidement inactivé et à faible seuil d activation. Il est en particulier impliqué dans la génération de rythme, dans le cœur, mais aussi dans le thalamus. Ses caractéristiques sont telles… …   Wikipédia en Français

  • Courant calcique de type t — Le courant calcique de type T est un courant transitoire rapidement inactivé et à faible seuil d activation. Il est en particulier impliqué dans la génération de rythme, dans le cœur, mais aussi dans le thalamus. Ses caractéristiques sont telles… …   Wikipédia en Français

  • Кальциевые каналы — Кальциевые каналы  это тип ионных каналов, избирательно проницаемых для ионов кальция Ca2+. Часто данный термин синонимичен потенциалуправляемым кальциевым каналам, хотя также существуют и лигандуправляемые кальциевые каналы.[1] Например,… …   Википедия

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”