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Genetics Home Reference: your guide to understanding genetic conditions
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CHRNB1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CHRNB1 gene?

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.

What is the normal function of the CHRNB1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1140):

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]

From UniProt (http://www.uniprot.org/uniprot/P11230):

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.

How are changes in the CHRNB1 gene related to health conditions?

Genetics Home Reference provides information about congenital myasthenic syndrome, which is associated with changes in the CHRNB1 gene.
UniProt (http://www.uniprot.org/uniprot/P11230) provides the following information about the CHRNB1 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1140) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CHRNB1 gene.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Myasthenic syndrome, slow-channel congenital
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the CHRNB1 gene and its association with health conditions.
OMIM
Number
Title

Where is the CHRNB1 gene located?

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.

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.

Where can I find additional information about CHRNB1?

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.

What other names do people use for the CHRNB1 gene or gene products?

  • ACHRB
  • CHRNB
  • CMS1D
  • CMS2A
  • SCCMS

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CHRNB1?

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.

 
Published: March 23, 2015