CACNA1G

CACNA1G

A gene on chromosome 17q22 that encodes the alpha-1G subunit of a voltage-dependent calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis. CACNA1G gives rise to T-type calcium channels that belong to the low-voltage activated (LVA) group, which are remarkable for opening at very negative potentials and for voltage-dependent inactivation. T-type channels are pacemakers for both central neurons and cardiac nodal cells, and support calcium signalling in secretory cells and vascular smooth muscle. They may be involved in modulating firing patterns of neurons, which is key to information processing as well as to cell growth.
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The research team has discovered a variant of a gene called CACNA1G that, according to the researchers, that makes boys four times more likely to develop autism, than girls.
No one has scrutinized the role that CACNA1G plays in autism.
They scoured the DNA of 1,046 members of families with at least two sons affected by autism for common gene variants and identified genetic markers to CACNA1G, which helps move calcium between the cells.
We added 11 markers [GATA3, GATA binding protein 3; GDNF, glial cell derived neurotrophic factor; OPCML, opioid binding protein/cell adhesion molecule-like; PENK, proenkephalin; TFAP2A, transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); APP, amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease); CACNA1G, calcium channel, voltage-dependent, T type, alpha 1G subunit; HOXA1, homeobox A1; NEUROG1, neurogenin 1; APBA2, amyloid beta (A4) precursor protein-binding, family A, member 2; and TRRAP, transformation/transcription domain-associated protein on the basis of a study that indicated increased methylated DNA in CRC tissue (19).