Variants
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CHRNG Gene

cholinergic receptor nicotinic gamma subunit

ALIAS SYMBOLS

  • None

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Description

The CHRNG gene provides instructions for making the gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits, each of which is produced from a different gene. The subunits are assembled into the AChR protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport, before being transported to the cell membrane. The γ subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the γ subunit is replaced by the epsilon (ε) subunit, which is produced by the CHRNE gene, to form the adult AChR protein.

CHROMOSOME

2


LOCATION

q37.1


LOCUS TYPE

gene with protein product

VARIANTS

155

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:1967

  • NCBI

    1146

  • OMIM

    100730

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