CACNA1H articles on Wikipedia
CACNA1H
voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the CACNA1H gene. This gene encodes Cav3.2, a T-type
Feb 6th 2017



CACNA1I
"Human PubMed Reference:".  "Mouse PubMed Reference:".  "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1I subunit".  Mittman
Feb 6th 2017



CACNA1G
"Human PubMed Reference:".  "Mouse PubMed Reference:".  "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit".  Perez-Reyes
Feb 6th 2017



Cav1.4
Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene. This gene encodes a member of the alpha-1
May 22nd 2016



Cav1.1
Cav1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a protein which in humans is encoded by the CACNA1S
May 19th 2016



Cav1.2
Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a protein that in humans is encoded by the CACNA1C gene. Cav1.2
Apr 4th 2017



Childhood absence epilepsy
T-type calcium channels such as those encoded by CACNA1H. There are currently 20 mutations in CACNA1H associated with CAE. These mutations are likely
Mar 4th 2017



Cav1.3
Calcium channel, voltage-dependent, L type, alpha 1D subunit (also known as Cav1.3) is a protein that in humans is encoded by the CACNA1D gene. Cav1.3
Nov 30th 2016



CACNA2D3
Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 (locus 3p21.1)
Feb 6th 2017



Cav2.1
The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene. Voltage-dependent calcium channels mediate the entry of calcium ions
Jun 8th 2016



R-type calcium channel
The R-type calcium channel is a type of voltage-dependent calcium channel. Like the others of this class, the α1 subunit forms the pore through which calcium
Apr 24th 2017



L-type calcium channel
See also: Cardiac action potential The L-type calcium channel (also known as the dihydropyridine channel, or DHP channel) is part of the high-voltage
Apr 24th 2017



Episodic ataxia
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous
Mar 4th 2017



X-linked congenital stationary night blindness
X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder. It has two forms, complete, also known as type-1
Jun 21st 2016



CACNA1B
The voltage-dependent N-type calcium channel subunit alpha-1B is a protein that in humans is encoded by the CACNA1B gene. "Drugs that physically interact
Apr 6th 2017



Familial hemiplegic migraine
Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes weakness of half the body which can last
Mar 16th 2017



N-type calcium channel
N-type calcium channels are voltage gated calcium channels that are distributed throughout the entire body. These channels are high voltage activated channels
Apr 26th 2017



Ion channel family
PKD1L3; CACNA1A; CACNA1B; CACNA1C; CACNA1D; CACNA1E; CACNA1F; CACNA1G; CACNA1H; CACNA1I; CACNA1S CATSPER1; CATSPER2; CATSPER3; CATSPER4 RYR1; RYR2;
Aug 13th 2016



Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 6 (SCA6SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria
Jun 21st 2016



Ocular albinism
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular
May 24th 2016



Voltage-dependent calcium channel
calcium channel ("Transient") low voltage activated Cav3.1 (CACNA1G) Cav3.2 (CACNA1H) Cav3.3 (CACNA1I) neurons, cells that have pacemaker activity, bone (osteocytes)
Mar 10th 2017



Calcium-binding protein 1
Calcium binding protein 1 is a protein that in humans is encoded by the CABP1 gene. Calcium-binding protein 1 is a calcium-binding protein discovered in
Nov 24th 2016



Timothy syndrome
Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including
Mar 28th 2017



Von Willebrand factor type A domain
The von Willebrand factor is a large multimeric glycoprotein found in blood plasma. Mutant forms are involved in the aetiology of bleeding disorders. In
Jun 6th 2016



Index of biophysics articles
Matthews (biochemist) Britton Chance Brush border Bulk movement CACNA1G CACNA1H CACNA1I CACNA2D1 CACNA2D2 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3
Aug 14th 2014



Idiopathic generalized epilepsy
unconsciousness (absence). Mutations in the calcium channel α subunit encoding gene CACNA1H and the GABA receptor γ subunit encoding gene GABRG2 yield susceptibility
Feb 19th 2017



P-type calcium channel
The P-type calcium channel is a type of voltage-dependent calcium channel. Similar to many other high-voltage-gated calcium channels, the α1 subunit determines
Apr 24th 2017



Nyctalopin
Nyctalopin is a protein that in humans is encoded by the NYX gene. It is a leucine-rich proteoglycan which is expressed in the eye, spleen and brain in
Jul 30th 2016



Endophenotype
Endophenotype is a genetic epidemiology term which is used to separate behavioral symptoms into more stable phenotypes with a clear genetic connection
Mar 19th 2017



Chromosome 19 (human)
Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million
Mar 26th 2017



Ribbon synapse
The ribbon synapse is a type of neuronal synapse characterized by the presence of an electron-dense structure, the synaptic ribbon, that holds vesicles
Apr 25th 2017



Ankyrin
Ankyrins are a family of adaptor proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton.
Dec 6th 2016



Pamela Sklar
Pamela Sklar (born July 20, 1959 in Baltimore, Maryland) is an American psychiatrist and neuroscientist. She is chief of the Division of Psychiatric Genomics
Feb 22nd 2017



Long QT syndrome
Long QT syndrome (LQTS) is a rare congenital and inherited or acquired heart condition in which delayed repolarization of the heart following a heartbeat
Apr 24th 2017



Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in rare cases) eye movement, acquired in infancy or later in life, that may result in reduced or
Apr 24th 2017



Li Tao (psychologist)
Li Tao (Chinese: 李涛) is a Chinese psychologist. She is a professor and a researcher, especially on topics relating to molecular genetics and mental illness
Apr 4th 2017



Brugada syndrome
Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac
Apr 18th 2017



Malignant hyperthermia
Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is usually triggered by exposure to certain drugs used
Apr 28th 2017



Physical exercise
"Workout" and "Exercise" redirect here. For other uses, see Workout (disambiguation) and Exercise (disambiguation). Physical exercise is any
Apr 25th 2017



GAERS
genetically complex idiopathic epilepsy. A functional mutation in the Cacna1h gene encoding the Cav3.2 low-voltage activated Ca2+ channel was found using
Apr 22nd 2016



ANK3
Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene. The protein encoded by this
Mar 28th 2017



Pleiotropy
This article is about genetic pleiotropy. For drug pleiotropy, see Pleiotropy (drugs). Pleiotropy (from Greek πλείων pleion, "more", and τρόπος tropos
Apr 18th 2017



Mir-137
In molecular biology, miR-137 (or microRNA-137) is a short non-coding RNA molecule that functions to regulate the expression levels of other genes by various
Apr 24th 2017



Bipolar disorder
"Manic depression" redirects here. For other uses, see Manic depression (disambiguation). "Bipolar disorders" redirects here. For the medical journal,
Apr 23rd 2017



List of OMIM disorder codes
This is a list of disorder codes in the Mendelian-Inheritance">Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic
Sep 20th 2016



Heritability of autism
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of
Apr 1st 2017



T-type calcium channel
channel, voltage-dependent, T-type, alpha 1H subunit Identifiers Symbol CACNA1H IUPHAR 536 Entrez 8912 HUGO 1395 OMIM 607904 RefSeq NM_001005407 UniProt
Apr 24th 2017



Calcium channel blocker
Calcium channel blockers (CCB), calcium channel antagonists or calcium antagonists are several medications that disrupt the movement of calcium (Ca2+ )
Dec 24th 2016



Cardiac action potential
The cardiac action potential is a brief change in voltage (membrane potential) across the cell membrane of heart cells. This is caused by the movement
Apr 27th 2017



Spinocerebellar ataxia
Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with
Mar 30th 2017





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