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.

A change in the ATP6V1A gene was identified in a male, age 5 with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) (read full description).

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: 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 (hg19) chr3:g.113513948C>A

Transcript NM_001690.3

DNA Change c.1123C>A

Protein Change p.Pro375Thr

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

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