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C147962Level 5

UBTF wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human UBTF wild-type allele is located in the vicinity of 17q21.31 and is approximately 17 kb in length. This allele, which encodes nucleolar transcription factor 1 protein, plays a role in ribosomal RNA synthesis. Mutation of the gene is associated with childhood-onset neurodegeneration with brain atrophy (CONDBA).

**Synonyms:** - CONDBA - NOR-90 - UBF - UBF-1 - UBF1 - UBF2 - Upstream Binding Factor Gene - Upstream Binding Transcription Factor (RNA Polymerase I) Gene - Upstream Binding Transcription Factor wt Allele - Upstream Binding Transcription Factor, RNA Polymerase I Gene

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