NSUN6 Chromosome 10

NOP2/Sun RNA methyltransferase 6

2 variants 2 Health Risk

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What This Gene Does

Enables tRNA (cytidine-5-)-methyltransferase activity and tRNA binding activity. Involved in tRNA C5-cytosine methylation. Located in cytoplasm. Implicated in autosomal recessive intellectual developmental disorder 82. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"NOP2/Sun RNA methyltransferase family|DNA/RNA methyltransferases"

Locus Type

gene with protein product

Location

10p12.31

Ensembl

ENSG00000241058

Associated Conditions (2)

Intellectual developmental disorder

autosomal recessive 82

Key Variants

RS774705707

Pathogenic

Intellectual developmental disorder, autosomal recessive 82, Intellectual developmental disorder

Health Risk

RS779073348

Pathogenic

Intellectual developmental disorder, autosomal recessive 82, Intellectual developmental disorder

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS774705707	Health Risk	Pathogenic	Intellectual developmental disorder, autosomal recessive 82, Intellectual developmental disorder
RS779073348	Health Risk	Pathogenic	Intellectual developmental disorder, autosomal recessive 82, Intellectual developmental disorder