Entity Details

Primary name CACNA1H
Entity type gene
Source Source Link

Details

PrimaryID8912
RefseqGeneNG_012647
SymbolCACNA1H
Namecalcium voltage-gated channel subunit alpha1 H
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAC1H_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001518 voltage-gated sodium channel complex
GO:0005244 voltage-gated ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005887 integral component of plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0006936 muscle contraction
GO:0007517 muscle organ development
GO:0007520 myoblast fusion
GO:0008016 regulation of heart contraction
GO:0008332 low voltage-gated calcium channel activity
GO:0016021 integral component of membrane
GO:0019228 neuronal action potential
GO:0032342 aldosterone biosynthetic process
GO:0032870 cellular response to hormone stimulus
GO:0034651 cortisol biosynthetic process
GO:0034765 regulation of ion transmembrane transport
GO:0035865 cellular response to potassium ion
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0046872 metal ion binding
GO:0070509 calcium ion import
GO:0086010 membrane depolarization during action potential
GO:0097110 scaffold protein binding
GO:0098662 inorganic cation transmembrane transport
GO:2000344 positive regulation of acrosome reaction

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617027 OMIMHyperaldosteronism, familial, 4 (HALD4)A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. The disease is caused by variants affecting the gene represented in this entry.
611942 OMIMEpilepsy, idiopathic generalized 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. Disease susceptibility may be associated with variants affecting the gene represented in this entry.
611942 OMIMEpilepsy, idiopathic generalized 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.