THUMPD1
Function
Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C) (PubMed:25653167, PubMed:35196516).
Involvement in disease
Neurodevelopmental disorder with speech delay and variable ocular anomalies
NEDSOA
An autosomal recessive disorder characterized by global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the THUMPD1 family.
Alternative names
THUMP domain-containing protein 1, THUMPD1