OnlineIMD
Ribonuclease Z 3' tRNA processing enzyme deficiency
Synonym(s)
Combined oxidative phosphorylation deficiency 17
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ELAC2
/ Escherichia coli Like tRNA 2'- Phosphotransferase 2
17p12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial tRNA 2'-phosphotransferase
Disease group(s)
10.1 Disorders of mitochondrial transcript processing and modification