ATP6V1A

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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

Date of Report

Oct 16, 2018

Full Name

ATPase H+ transporting V1 subunit A

Location
Chromosome 3 (3q13.31)


Function

The ATP6V1A gene is involved in the production of an enzyme responsible for controlling the movement of protons (H+) across cellular membranes (Fassio et al., 2018).

Database Links

GeneCards: GC03P113747

Genetics Home Reference: ATP6V1A

NCBI Gene: 523 

OMIM: 607027

UniProtKB/Swiss-Prot: P38606

Clinical Significance

The following change in this gene was identified in a UDN participant

Gene ATP6V1A
Inheritance Pattern Autosomal dominant
Position Chr3:113513948
Transcript NM_001690
DNA Change c.1123C>A
Protein Change p.P375T

Other individuals with similar symptoms and changes in this gene have been identified (Fassio et al. 2018).

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!