CACNA1G
CACNA1G is a gene that in humans encodes the alpha-1G subunit of the T-type, voltage-dependent calcium channel. This gene is part of the calcium channel family of genes, which play a crucial role in the regulation of neuronal excitability and various physiological functions such as muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death.
Function[edit | edit source]
The CACNA1G gene provides instructions for making one part (the alpha-1G subunit) of a calcium channel. This channel, which transports positively charged calcium atoms (calcium ions) across cell membranes, is found in many types of cells throughout the body. The alpha-1G subunit forms the hole (pore) through which calcium ions can flow into the cell.
Clinical significance[edit | edit source]
Mutations in the CACNA1G gene have been associated with several neurological disorders, including spinocerebellar ataxia type 42 (SCA42), idiopathic generalized epilepsy (IGE), and childhood absence epilepsy (CAE). These conditions are characterized by problems with movement and coordination, seizures, and other neurological problems.
Research[edit | edit source]
Research into the CACNA1G gene and its associated proteins continues to be a significant focus in the field of neuroscience. Understanding the function and regulation of this gene could lead to new treatments for a variety of neurological disorders.
See also[edit | edit source]
- Voltage-dependent calcium channel
- Spinocerebellar ataxia
- Idiopathic generalized epilepsy
- Childhood absence epilepsy
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