THUMPD1

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Description

The THUMPD1 (THUMP domain containing 1) is a protein-coding gene located on chromosome 16.

THUMPD1 acts as a tRNA-binding adapter, facilitating the acetylation of tRNA by the enzyme NAT10. This acetylation process modifies cytidine nucleotides within tRNA, converting them to N4-acetylcytidine (ac4C).

THUMPD1 is also known as NEDSOA, Tan1.

Associated Diseases

• Neurodevelopmental disorder with speech delay and variable ocular anomalies