EIF4A3 Chromosome 17

Eukaryotic translation initiation factor 4A3
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAD-box helicases|Exon junction complex|SSU processome|Spliceosomal Bact complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141543
Associated Conditions (2)
Inborn genetic diseases
Richieri Costa-Pereira syndrome
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1598604607 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587777204 Health Risk Pathogenic Richieri Costa-Pereira syndrome, Richieri Costa-Pereira syndrome
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