Primary Identifier | IPR040197 | Type | Family |
Short Name | ZNHIT3 |
description | 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 [].This entry also includes Hit1 from budding yeasts. Hit1 is involved in C/D snoRNP assembly []. |