QuickView for CHRNG (gene)

Gene Symbol:

CHRNG Homo sapiens

Full name:

cholinergic receptor nicotinic gamma subunit

Synonyms:

ACHRG, acetylcholine receptor subunit gamma, acetylcholine receptor, muscle, gamma subunit, acetylcholine receptor, nicotinic, gamma (muscle), cholinergic receptor, nicotinic gamma, cholinergic receptor, nicotinic, gamma (muscle), cholinergic receptor, nicotinic, gamma polypeptide

Genomic Location:

Chr 2: 233112681-233119282

Description:

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The ga...

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The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_01 ,  TAL1ALPHAE47_01 ,  AP4_Q6 ,  MYOD_Q6 ,  AP4_Q6_01 ,  CAGCTG_AP4_Q5 ,  AP4_Q5

Cytogenetic Map:

2q37.1

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