EEF1B2 Chromosome 2

Eukaryotic translation elongation factor 1 beta 2

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Small nucleolar RNA protein coding host genes

Locus Type

gene with protein product

Location

2q33.3

Ensembl

ENSG00000114942

Associated Conditions (4)

Intellectual disability

Moderate global developmental delay

Seizure

Global developmental delay

Key Variants

RS1576016842

Pathogenic

Intellectual disability, Moderate global developmental delay, Seizure

Health Risk

RS2105784954

Pathogenic

Global developmental delay, Global developmental delay

Health Risk

RS765917912

Pathogenic

Global developmental delay, Global developmental delay

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1576016842	Health Risk	Pathogenic	Intellectual disability, Moderate global developmental delay, Seizure
RS2105784954	Health Risk	Pathogenic	Global developmental delay, Global developmental delay
RS765917912	Health Risk	Pathogenic	Global developmental delay, Global developmental delay