|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “cholinergic receptor, nicotinic, beta 1 (muscle).”
CHRNB1 is the gene's official symbol. The CHRNB1 gene is also known by other names, listed below.
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Myasthenic syndrome, congenital, slow-channel (SCCMS): A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. The disease is caused by mutations affecting the gene represented in this entry.
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD): A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. The disease is caused by mutations affecting the gene represented in this entry.
|601462 (http://omim.org/entry/601462)||MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL|
|608931 (http://omim.org/entry/608931)||MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|
|100710 (http://omim.org/entry/100710)||CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1|
Cytogenetic Location: 17p13.1
Molecular Location on chromosome 17: base pairs 7,445,086 to 7,457,612
The CHRNB1 gene is located on the short (p) arm of chromosome 17 at position 13.1.
More precisely, the CHRNB1 gene is located from base pair 7,445,086 to base pair 7,457,612 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CHRNB1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acetylcholine ; channel ; congenital ; deficiency ; gene ; hypotonia ; inherited ; ophthalmoplegia ; plasma ; plasma membrane ; presynaptic ; ptosis ; receptor ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.