CHRNA3

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

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Changes in the CHRNA3 gene were identified in male, age 68, 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: CHRNA3

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 (hg19) chr15:g.78894076_78894077del & 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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