| 1553438 | Cav1 | caveolin 1, caveolae protein | Enables several functions, including enzyme binding activity; oxysterol binding activity; and protein heterodimerization activity. Involved in several processes, including negative regulation of programmed cell death; regulation of heart contraction; and regulation of macromolecule metabolic process . Acts upstream of with a negative effect on lactation. Acts upstream of or within several processes, including blood vessel diameter maintenance; blood vessel morphogenesis; and negative regulation of signal transduction. Located in several cellular components, including acrosomal membrane; caveola; and perinuclear region of cytoplasm. Part of caveolar macromolecular signaling complex. Colocalizes with focal adhesion. Is expressed in several structures, including cardiovascular system; cerebral cortex; lung; paraxial mesenchyme; and tooth. Used to study Alzheimer's disease; breast cancer; and hypertrophic cardiomyopathy. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); lipodystrophy (multiple); primary open angle glaucoma; primary pulmonary hypertension; and systemic scleroderma (multiple). Orthologous to human CAV1 (caveolin 1). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 17306387 | 17341323 | Mouse | 1090 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1550302 | Cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | Enables enzyme binding activity and voltage-gated calcium channel activity involved in cardiac muscle cell action potential. Involved in positive regulation of adenylate cyclase activity. Acts upstream of or within several processes, including adult walking behavior; regulation of blood circulation; and secretion by cell. Located in several cellular components, including T-tubule; Z disc; and dendritic shaft. Part of caveolar macromolecular signaling complex and voltage-gated calcium channel complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and heart. Used to study Timothy syndrome. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 118564201 | 119174345 | Mouse | 632 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 731993 | Cacna1f | calcium channel, voltage-dependent, alpha 1F subunit | Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including intracellular calcium ion homeostasis; neuron projection morphogenesis; and visual perception. Predicted to be located in membrane; perikaryon; and photoreceptor outer segment. Predicted to be par t of voltage-gated calcium channel complex. Is expressed in cerebellum and hippocampus. Used to study congenital stationary night blindness 2A. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F). [provided by Alliance of Genome Resources, Jul 2025] | X | 7473342 | 7501435 | Mouse | 192 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 733918 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alim entary system; central nervous system; eye; genitourinary system; and hindlimb musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 135980549 | 136047268 | Mouse | 312 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 735458 | Cacna1d | calcium channel, voltage-dependent, L type, alpha 1D subunit | This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart de fects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014] | 14 | 29761898 | 30213113 | Mouse | 383 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
