EIF2AK2

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

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A change in the EIF2AK2 gene was identified in a male, age 13, with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities (read full description).

Date of Report

May 06, 2021

Full Name

Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2

Location

Chromosome 2 (2p22.2)

Function

The EIF2AK2 gene encodes a serine/threonine kinase. Once the kinase is activated, it phosphorylates the alpha subunit of eukaryotic protein synthesis initiation factor-2, which leads to the inhibition of protein synthesis (Kuhen et al., 1996).

Database Links

GeneCards: EIF2AK2

NCBI Gene: 5610

OMIM: 176871

UniProtKB/Swiss-Prot: P19525

Clinical Significance

A de novo change in this gene was identified in a UDN participant and other individuals with similar symptoms (Mao et al., 2020).

Gene EIF2AK2

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.37374919T>G

Transcript NM_002759.2

DNA Change c.31A>C

Protein Change p.Met11Leu

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