Molecular weight (DA)
217kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 140-220
Specificity
CAC1F Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
calcium voltage-gated channel subunit alpha1 F(CACNA1F) Homo sapiens This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013],
Function
disease:Defects in CACNA1F are the cause of Aaland island eye disease (AIED) [MIM:300600]; also called Forsius-Eriksson type ocular albinism. On the Aaland island in the Baltic Sea, AIED is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.,disease:Defects in CACNA1F are the cause of cone-rod dystrophy X-linked type 3 (CORDX3) [MIM:300476]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantl
Gene Name
CACNA1F CACNAF1
Protein name
Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)
Fields
>>MAPK signaling pathway;>>Calcium signaling pathway;>>cGMP-PKG signaling pathway;>>cAMP signaling pathway;>>Cardiac muscle contraction;>>Adrenergic signaling in cardiomyocytes;>>Vascular smooth muscle contraction;>>Retrograde endocannabinoid signaling;>>Cholinergic synapse;>>Serotonergic synapse;>>GABAergic synapse;>>Insulin secretion;>>GnRH signaling pathway;>>Oxytocin signaling pathway;>>Renin secretion;>>Aldosterone synthesis and secretion;>>Cortisol synthesis and secretion;>>GnRH secretion;>>Cushing syndrome;>>Growth hormone synthesis, secretion and action;>>Alzheimer disease;>>Prion disease;>>Pathways of neurodegeneration - multiple diseases;>>Chemical carcinogenesis - receptor activation;>>Hypertrophic cardiomyopathy;>>Arrhythmogenic right ventricular cardiomyopathy;>>Dilated cardiomyopathy
Human protein sequence Database
O60840
Mouse protein sequence database
Q9JIS7
Rat protein sequence database
Cellular localization
Membrane; Multi-pass membrane protein.
Tissue expression
Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626).
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