Preferred Label : CACNA1C wt Allele;
NCIt synonyms : Voltage-Dependent L-Type Ca2 Channel Alpha 1 Subunit Gene; Calcium Voltage-Gated Channel Subunit Alpha1 C wt Allele; Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit Gene; CACNL1A1; TS; Calcium Channel, Cardic Dihydropyridine-Sensitive, Alpha-1 Subunit Gene; CACN2; Calcium Channel, Voltage-Dependent, L Type, Alpha-1C Subunit Gene; CACH2; NEDHLSS; TS. LQT8; CCHL1A1; CaV1.2; Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle Gene; DHPR, Alpha-1 Subunit Gene; LQT8;
NCIt definition : Human CACNA1C wild-type allele is located in the vicinity of 12p13.33 and is approximately
727 kb in length. This allele, which encodes voltage-dependent L-type calcium channel
subunit alpha-1C protein, plays a role in calcium ion release from the sarcomere,
which regulates cardiac development, heart rhythm and blood pressure. Mutation of
the gene is associated with Brugada syndrome 3, long QT syndrome 8, Timothy syndrome
and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects
with or without seizures.;
NCI Metathesaurus CUI : CL1912895;
GenBank Accession Number : AF070589;
Origin ID : C192744;
UMLS CUI : C5780772;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
