EMG1 Chromosome 12

EMG1 N1-specific pseudouridine methyltransferase

1 variant 1 Health Risk

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What This Gene Does

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Gene Info

Gene Group

"SPOUT methyltransferase domain containing|SSU processome|DNA/RNA methyltransferases"

Locus Type

gene with protein product

Location

12p13.31

Ensembl

ENSG00000126749

Associated Conditions (1)

Bowen-Conradi syndrome

Key Variants

RS74435397

Pathogenic

Bowen-Conradi syndrome, Bowen-Conradi syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS74435397	Health Risk	Pathogenic	Bowen-Conradi syndrome, Bowen-Conradi syndrome