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.

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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)

Function

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

Database Links

GeneCards: ATP13A2

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

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