InterPro domain: IPR040197

Zinc finger HIT domain-containing protein 3 (ZNHIT3) contains a HIT-type zinc finger. ZNHIT3 is localized in the nucleus and has been implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing. Mutations in the ZNHIT3 gene cause a severe encephalopathy with cerebellar granule neuron loss known as PEHO (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) syndrome [ 1 ].

This entry also includes Hit1 from budding yeasts. Hit1 is involved in C/D snoRNP assembly [ 2 ].

1. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain 140, 1267-1279
2. Protein Hit1, a novel box C/D snoRNP assembly factor, controls cellular concentration of the scaffolding protein Rsa1 by direct interaction. Nucleic Acids Res. 42, 10731-47