ATP13A2

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.

Changes in the ATP13A2 gene were identified in a UDN participant with slurred speech, problems with coordination, and cognitive problems (read full description).

Date of Report

Dec 07, 2022

Full Name

ATPase 13A2

Location
Chromosome 1 (1p36.13)
Picture1.png

Function

ATP13A2 encodes an ATPases protein that transports inorganic cations and other substrates across the cell membrane (Schulthesis et al., 2004).

Database Links

GeneCards: GC01M016985

NCBI Gene: 23400

OMIM: 610513

UniProtKB/Swiss-Prot: Q9NQ11

Clinical Significance

Changes in this gene were identified in a UDN participant.

Gene ATP13A2
Inheritance Pattern Autosomal recessive
Position (hg19) chr1:g.17323669_ 17323670del & g.17313567del
Transcript NM_022089.4
DNA Change c.1045_1046del & c.3057del
Protein Change p.Ser349HisfsTer74 & p.Tyr1020ThrfsTer3
Contact Us

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

Top