CACNA1S wt Allele

Preferred Label : CACNA1S wt Allele;

NCIt synonyms : TTPP1; Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 3, Skeletal Muscle Gene; Calcium Channel, L Type, Alpha 1 Polypeptide, Isoform 3 (Skeletal Muscle, Hypokalemic Periodic Paralysis) Gene; Cav1.1; Calcium Channel, Voltage-Dependent, L Type, Alpha-1S Subunit Gene; CACNL1A3; CACN1; Calcium Voltage-Gated Channel Subunit Alpha1 S wt Allele; HOKPP1; CACH1; hypoPP; MHS5; CCHL1A3; HOKPP; Calcium Channel, Skeletal Muscle Dihydropyridine-Sensitive, Alpha-1 Subunit Gene; Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit Gene;

NCIt definition : Human CACNA1S wild-type allele is located in the vicinity of 1q32.1 and is approximately 73 kb in length. This allele, which encodes voltage-dependent L-type calcium channel subunit alpha-1S protein, is involved in skeletal muscle contraction. Mutation of the gene is associated with susceptibility to hypothermia and to two types of periodic paralysis, hypokalemic and thyrotoxic.;

NCI Metathesaurus CUI : CL551976;

GenBank Accession Number : L33798;

Details

Origin ID

C150195;

UMLS CUI

C4723680;

Automatic exact mappings (from CISMeF team)
- Calcium channel, voltage-dependent, L type, alpha-1s subunit [OMIM gene]
- Hypokalemic periodic paralysis, type 1 [OMIM Phenotype]
- Malignant hyperthermia, susceptibility to, 5 [OMIM Phenotype]
- Thyrotoxic periodic paralysis, susceptibility to, 1 [OMIM Phenotype]
- calcium voltage-gated channel subunit alpha1 S [ORDO Gene]
- hypokalemic periodic paralysis [MeSH Descriptor]
- potassium voltage-gated channel subfamily E regulatory subunit 3 [ORDO Gene]
OMIM relation
- Calcium channel, voltage-dependent, L type, alpha-1s subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q32.1 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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