CHRNA3

On this page, you will find information about genetic changes that were identified in a UDN participant. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the CHRNA3 gene were identified in a 68-year-old male with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts (read full description). 

Date of Report

Jul 09, 2021

Full Name

cholinergic receptor nicotinic alpha 3 subunit

Location
Chromosome 15 (15q25.1)


Function

The CHRNA3 gene encodes a subunit of a receptor important in the nervous system and is thought to be important in cardiovascular homeostasis (Rana BK, et al., 2009).

Database Links

GeneCards: GC15M078594

NCBI Gene: 1136 

OMIM: 118503

UniProtKB/Swiss-Prot: P32297

Clinical Significance

Changes in this gene were identified in a UDN participant and other individuals with similar symptoms (Shibao et al., 2021).

Gene CHRNA3
Inheritance Pattern Autosomal recessive
Position chr15:g.78894076_ 78894077delAG & chr15:g.78894296C>T
Transcript NM_000743.4
DNA Change c.907_908delCT & c.688G>A
Protein Change p.Leu303AspfsTer115 & p.Asp230Asn
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