TUT1 Chromosome 11

Terminal uridylyl transferase 1, U6 snRNA-specific

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]

Gene Info

Gene Group

"RNA binding motif containing|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases"

Locus Type

gene with protein product

Location

11q12.3

Ensembl

ENSG00000149016

Associated Conditions (1)

Abnormal brain morphology

Key Variants

RS765227276

Likely pathogenic

Abnormal brain morphology, Abnormal brain morphology

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS765227276	Health Risk	Likely pathogenic	Abnormal brain morphology, Abnormal brain morphology