Gene: UBTF

Alternate names for this Gene: CONDBA|NOR-90|UBF|UBF-1|UBF1|UBF2

Gene Summary: This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: upstream binding transcription factor

Type of Gene: protein-coding

Gene: LOC101926967

Alternate names for this Gene:

Gene Summary:

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rs2071167 in UBTF;LOC101926967 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs1555582065 in UBTF;LOC101926967 gene and Global developmental delay PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

rs1555582065 in UBTF;LOC101926967 gene and NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY PMID 28777933 2017 Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

rs1555582065 in UBTF;LOC101926967 gene and Nerve Degeneration PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

rs1555582065 in UBTF;LOC101926967 gene and Poor school performance PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.