CARNMT1 Chromosome 9

Carnosine N-methyltransferase 1

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Gene Info

Gene Group

"7BS protein methyltransferases|7BS small molecule methyltransferases|7BS protein histidine methyltransferases|Histidine methyltransferases|Small molecule methyltransferases"

Locus Type

gene with protein product

Location

9q21.13

Ensembl

ENSG00000156017

Associated Conditions (1)

Intellectual disability

Key Variants

RS1822581744

Likely pathogenic

Intellectual disability, Intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1822581744	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability