DISEASES

Disease-gene associations mined from literature

Literature associating ZBTB8OS and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

ZBTB8OS [ENSP00000417677]

Zinc finger and BTB domain-containing opposite strand protein 8; Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation; Belongs to the archease family.

Synonyms:  ZBTB8OS,  ZBTB8OSp,  hZBTB8OS,  A8K0B5,  D3DPQ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM