tRNA N4-acetylcytidine transferase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- THUMPD1 / THUMPD1
  16p12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Probable tRNA-modifying protein THUMPD1, mitochondrial
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing