What is the official name of the CHRNA1 gene?
The official name of this gene is “cholinergic receptor, nicotinic, alpha 1 (muscle).”
CHRNA1 is the gene's official symbol. The CHRNA1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CHRNA1 gene?
- From NCBI Gene:
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
- From UniProt:
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 CHRNA1 gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the CHRNA1 gene:
- UniProt provides the following information about the CHRNA1 gene's known or predicted involvement in human disease.
Multiple pterygium syndrome, lethal type (LMPS): Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The disease is caused by mutations affecting the gene represented in this entry.
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, fast-channel (FCCMS): A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CHRNA1 gene.
- Lethal multiple pterygium syndrome
- Myasthenic syndrome, congenital, fast-channel
- Myasthenic syndrome, slow-channel congenital
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the CHRNA1 gene and its association with health conditions.
Where is the CHRNA1 gene located?
Cytogenetic Location: 2q31.1
Molecular Location on chromosome 2: base pairs 174,747,591 to 174,764,471
The CHRNA1 gene is located on the long (q) arm of chromosome 2 at position 31.1.
More precisely, the CHRNA1 gene is located from base pair 174,747,591 to base pair 174,764,471 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CHRNA1?
You and your healthcare professional may find the following resources about CHRNA1 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the CHRNA1 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CHRNA1?
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
See How can I find a genetics professional in my area? in the Handbook.