CHRNG

CHRNG is a gene that encodes the gamma subunit of the acetylcholine receptor. This receptor is a pentameric transmembrane protein that responds to the binding of acetylcholine, a neurotransmitter released from nerve endings. The CHRNG gene is located on chromosome 2 in humans.

Structure

The CHRNG gene is composed of 7 exons and spans approximately 8.5 kilobases. The encoded protein is a subunit of the acetylcholine receptor, which is composed of five subunits: two alpha subunits, and one each of beta, delta, and gamma (or epsilon in adult muscle). The gamma subunit is encoded by the CHRNG gene in fetal muscle, and by the CHRNE gene in adult muscle.

Function

The acetylcholine receptor, including the gamma subunit, is found at the neuromuscular junction in skeletal muscle. When acetylcholine binds to the receptor, it induces a conformational change that leads to the opening of an ion channel. This allows positively charged ions to flow across the membrane, leading to muscle contraction.

Clinical significance

Mutations in the CHRNG gene can lead to a condition known as Escobar syndrome, which is characterized by multiple joint contractures, facial abnormalities, and respiratory problems. This condition is inherited in an autosomal recessive manner.

See also

• Acetylcholine receptor
• CHRNE
• Escobar syndrome